5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in appr...
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Published in | Orphanet journal of rare diseases Vol. 6; no. 1; p. 85 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
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BioMed Central Ltd
22.12.2011
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Abstract | Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG.
We sequenced the 5'UTR of ENG for 154 HHT patients without mutations in ENG or ACVRL1 coding regions. We found a mutation (c.-127C > T), which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the ENG, as well as in three other patients, one of which had an affected sibling with the same mutation. In vitro expression studies showed that a construct with the c.-127C > T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G > A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G > A is a hypomorphic mutation.
Our results emphasize the need for the inclusion of the 5'UTR region of ENG in clinical testing for HHT. |
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AbstractList | Abstract Background: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1 ) or Endoglin (ENG ) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG . Methods and Results: We sequenced the 5'UTR of ENG for 154 HHT patients without mutations in ENG or ACVRL1 coding regions. We found a mutation (c.-127C > T), which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the ENG , as well as in three other patients, one of which had an affected sibling with the same mutation. In vitro expression studies showed that a construct with the c.-127C > T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G > A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G > A is a hypomorphic mutation. Conclusions: Our results emphasize the need for the inclusion of the 5'UTR region of ENG in clinical testing for HHT. Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG. Methods and Results We sequenced the 5'UTR of ENG for 154 HHT patients without mutations in ENG or ACVRL1 coding regions. We found a mutation (c.-127C > T), which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the ENG, as well as in three other patients, one of which had an affected sibling with the same mutation. In vitro expression studies showed that a construct with the c.-127C > T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G > A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G > A is a hypomorphic mutation. Conclusions Our results emphasize the need for the inclusion of the 5'UTR region of ENG in clinical testing for HHT. Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG. We sequenced the 5'UTR of ENG for 154 HHT patients without mutations in ENG or ACVRL1 coding regions. We found a mutation (c.-127C > T), which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the ENG, as well as in three other patients, one of which had an affected sibling with the same mutation. In vitro expression studies showed that a construct with the c.-127C > T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G > A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G > A is a hypomorphic mutation. Our results emphasize the need for the inclusion of the 5'UTR region of ENG in clinical testing for HHT. Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 ( ACVRL1 ) or Endoglin ( ENG ) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG . Methods and Results We sequenced the 5'UTR of ENG for 154 HHT patients without mutations in ENG or ACVRL1 coding regions. We found a mutation (c.-127C > T), which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the ENG , as well as in three other patients, one of which had an affected sibling with the same mutation. In vitro expression studies showed that a construct with the c.-127C > T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G > A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G > A is a hypomorphic mutation. Conclusions Our results emphasize the need for the inclusion of the 5'UTR region of ENG in clinical testing for HHT. BACKGROUNDHereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG. METHODS AND RESULTSWe sequenced the 5'UTR of ENG for 154 HHT patients without mutations in ENG or ACVRL1 coding regions. We found a mutation (c.-127C > T), which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the ENG, as well as in three other patients, one of which had an affected sibling with the same mutation. In vitro expression studies showed that a construct with the c.-127C > T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G > A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G > A is a hypomorphic mutation. CONCLUSIONSOur results emphasize the need for the inclusion of the 5'UTR region of ENG in clinical testing for HHT. Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG. We sequenced the 5'UTR of ENG for 154 HHT patients without mutations in ENG or ACVRL1 coding regions. We found a mutation (c.-127C > T), which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the ENG, as well as in three other patients, one of which had an affected sibling with the same mutation. In vitro expression studies showed that a construct with the c.-127C > T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G > A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G > A is a hypomorphic mutation. Our results emphasize the need for the inclusion of the 5'UTR region of ENG in clinical testing for HHT. |
ArticleNumber | 85 |
Audience | Academic |
Author | Bayrak-Toydemir, Pinar McDonald, Jamie Botella, Luisa M Blanco, Francisco J Wooderchak-Donahue, Whitney Stevenson, David A Langa, Carmen Damjanovich, Kristy Bernabeu, Carmelo |
AuthorAffiliation | 4 Department of Pediatrics, University of Utah, Salt Lake City, UT, USA 3 Department of Pathology, University of Utah, Salt Lake City, UT, USA 2 Centro de Investigaciones Biológicas, CSIC and Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), 28040 Madrid, Spain 1 ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA |
AuthorAffiliation_xml | – name: 2 Centro de Investigaciones Biológicas, CSIC and Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), 28040 Madrid, Spain – name: 3 Department of Pathology, University of Utah, Salt Lake City, UT, USA – name: 1 ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA – name: 4 Department of Pediatrics, University of Utah, Salt Lake City, UT, USA |
Author_xml | – sequence: 1 givenname: Kristy surname: Damjanovich fullname: Damjanovich, Kristy organization: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA – sequence: 2 givenname: Carmen surname: Langa fullname: Langa, Carmen – sequence: 3 givenname: Francisco J surname: Blanco fullname: Blanco, Francisco J – sequence: 4 givenname: Jamie surname: McDonald fullname: McDonald, Jamie – sequence: 5 givenname: Luisa M surname: Botella fullname: Botella, Luisa M – sequence: 6 givenname: Carmelo surname: Bernabeu fullname: Bernabeu, Carmelo – sequence: 7 givenname: Whitney surname: Wooderchak-Donahue fullname: Wooderchak-Donahue, Whitney – sequence: 8 givenname: David A surname: Stevenson fullname: Stevenson, David A – sequence: 9 givenname: Pinar surname: Bayrak-Toydemir fullname: Bayrak-Toydemir, Pinar |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/22192717$$D View this record in MEDLINE/PubMed |
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Cites_doi | 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B 10.1002/humu.9421 10.1002/humu.9312 10.1136/jmg.2009.069013 10.1016/S0968-0004(03)00051-3 10.1007/s00439-010-0825-4 10.1182/blood-2004-01-0332 10.1136/jmg.40.8.585 10.1097/GIM.0b013e3182136d32 10.1056/NEJM199510053331407 10.1038/ng0696-189 10.1097/01.GIM.0000132689.25644.7C 10.1136/jmg.2004.028712 10.1172/JCI119800 10.1111/j.1399-0004.2010.01596.x 10.1016/j.gene.2005.06.037 10.1093/hmg/8.12.2171 10.1074/jbc.M111991200 10.1182/blood.V92.12.4677 10.1038/sj.ejhg.5201649 10.1086/513906 10.1038/ejhg.2008.3 10.1002/ajmg.a.31450 10.1038/ng1294-345 10.1016/0022-2836(87)90418-9 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P 10.1186/1471-2350-12-130 10.1038/ejhg.2009.35 10.1016/S0378-1119(98)00585-X 10.1136/jmg.2005.030833 10.1002/humu.20342 10.1016/S0140-6736(04)15732-2 10.1002/humu.10203 10.1002/eji.1830230943 10.1038/5082 10.1186/1471-2350-9-75 10.1016/j.bbamem.2010.06.015 10.1136/jmg.2006.042606 10.1016/j.blre.2010.07.001 10.1002/humu.9413 |
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References | 16757948 - Eur J Hum Genet. 2006 Oct;14(10):1074-81 9554745 - Hum Mutat. 1998;11(4):286-94 9322041 - Proc Int Conf Intell Syst Mol Biol. 1997;5:226-33 10751092 - Am J Med Genet. 2000 Mar 6;91(1):66-7 16752392 - Hum Mutat. 2006 Jul;27(7):667-75 9366572 - J Clin Invest. 1997 Nov 15;100(10):2568-79 9931433 - Gene. 1999 Feb 4;227(1):55-62 18673552 - BMC Med Genet. 2008;9:75 12015308 - J Biol Chem. 2002 Aug 9;277(32):29197-209 15198949 - Blood. 2004 Oct 1;104(7):2181-3 19553198 - J Med Genet. 2011 Feb;48(2):73-87 10545596 - Hum Mol Genet. 1999 Nov;8(12):2171-81 16690726 - J Med Genet. 2006 Sep;43(9):722-8 20870325 - Blood Rev. 2010 Nov;24(6):203-19 8370410 - Eur J Immunol. 1993 Sep;23(9):2340-5 18285823 - Eur J Hum Genet. 2008 Jun;16(6):742-9 21967607 - BMC Med Genet. 2011;12:130 21546842 - Genet Med. 2011 Jul;13(7):607-16 16969873 - Am J Med Genet A. 2006 Oct 15;140(20):2155-62 16705692 - Hum Mutat. 2006 Jun;27(6):598 7894484 - Nat Genet. 1994 Dec;8(4):345-51 19337313 - Eur J Hum Genet. 2009 Jul;17(7):860-71 8640225 - Nat Genet. 1996 Jun;13(2):189-95 20599535 - Biochim Biophys Acta. 2011 Mar;1808(3):912-24 12673790 - Hum Mutat. 2003 May;21(5):482-92 15712271 - Hum Mutat. 2005 Mar;25(3):320-1 15266205 - Genet Med. 2004 Jul-Aug;6(4):175-91 3681984 - J Mol Biol. 1987 Aug 20;196(4):947-50 16213112 - Gene. 2005 Nov 21;361:13-37 15994879 - J Med Genet. 2005 Jul;42(7):577-82 9845534 - Blood. 1998 Dec 15;92(12):4677-90 15879500 - J Med Genet. 2006 Feb;43(2):97-110 20414677 - Hum Genet. 2010 Jul;128(1):61-77 9245986 - Am J Hum Genet. 1997 Jul;61(1):68-79 9916806 - Nat Genet. 1999 Jan;21(1):128-32 16470589 - Hum Mutat. 2006 Mar;27(3):295 12920067 - J Med Genet. 2003 Aug;40(8):585-90 15031030 - Lancet. 2004 Mar 13;363(9412):852-9 7666879 - N Engl J Med. 1995 Oct 5;333(14):918-24 21158752 - Clin Genet. 2011 Apr;79(4):335-44 12713901 - Trends Biochem Sci. 2003 Apr;28(4):182-8 J McDonald (350_CR20) 2011; 13 P Bayrak-Toydemir (350_CR18) 2006; 140A N Pece-Barbara (350_CR34) 1999; 8 M Kozak (350_CR27) 1998; 196 NL Prigoda-Lee (350_CR19) 2006; 43 SA Abdalla (350_CR2) 2005; 25 MJ Kim (350_CR33) 2011; 12 N Pece (350_CR36) 1997; 100 W Graulich (350_CR31) 1999; 227 CJ Gallione (350_CR35) 1998; 11 SA Abdalla (350_CR37) 2006; 43 T Matthes (350_CR38) 2004; 104 M Kozak (350_CR26) 2005; 361 P Bayrak-Toydemir (350_CR1) 2004; 48 U Cymerman (350_CR32) 2003; 21 CJ Gallione (350_CR16) 2004; 363 L Lui (350_CR39) 1999; 21 R Richards-Yutz (350_CR29) 2010; 128 T Bellon (350_CR23) 1993; 23 CL Shovlin (350_CR8) 2010; 24 C Rius (350_CR21) 1998; 92 J Berg (350_CR4) 2003; 40 AG Pedersen (350_CR25) 1997 CL Shovlin (350_CR6) 2000; 91 M Guerrero-Esteo (350_CR24) 2002; 277 R Zimmermann (350_CR28) 2011; 1808 FS Giovani (350_CR3) 2009; 17 A Fernandez-L (350_CR10) 2006; 27 G Lesca (350_CR30) 2006; 27 ME Faughnan (350_CR7) 2011; 48 SG Cole (350_CR17) 2005; 42 AE Guttmacher (350_CR5) 1995; 333 CL Shovlin (350_CR41) 1997; 61 A Fontalba (350_CR11) 2008; 9 M Khajavi (350_CR40) 2006; 14 AD Bossler (350_CR9) 2006; 57 GS Wilkie (350_CR22) 2003; 28 DW Johnson (350_CR15) 1996; 13 G Lesca (350_CR13) 2008; 16 KA McAllister (350_CR14) 1994; 8 J McDonald (350_CR12) 2011; 79 |
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start-page: 2181 year: 2004 ident: 350_CR38 publication-title: Blood doi: 10.1182/blood-2004-01-0332 contributor: fullname: T Matthes – volume: 40 start-page: 585 year: 2003 ident: 350_CR4 publication-title: J Med Genet doi: 10.1136/jmg.40.8.585 contributor: fullname: J Berg – volume: 13 start-page: 607 issue: 7 year: 2011 ident: 350_CR20 publication-title: Gen in Med doi: 10.1097/GIM.0b013e3182136d32 contributor: fullname: J McDonald – volume: 333 start-page: 918 year: 1995 ident: 350_CR5 publication-title: N Engl J Med doi: 10.1056/NEJM199510053331407 contributor: fullname: AE Guttmacher – volume: 13 start-page: 189 issue: 2 year: 1996 ident: 350_CR15 publication-title: Nat Genet doi: 10.1038/ng0696-189 contributor: fullname: DW Johnson – volume: 48 start-page: 175 issue: 12 year: 2004 ident: 350_CR1 publication-title: Genet Med doi: 10.1097/01.GIM.0000132689.25644.7C contributor: fullname: P Bayrak-Toydemir – volume: 42 start-page: 577 year: 2005 ident: 350_CR17 publication-title: J Med Genet doi: 10.1136/jmg.2004.028712 contributor: fullname: SG Cole – volume: 100 start-page: 2568 issue: 10 year: 1997 ident: 350_CR36 publication-title: J Clin Invest doi: 10.1172/JCI119800 contributor: fullname: N Pece – volume: 79 start-page: 335 issue: 4 year: 2011 ident: 350_CR12 publication-title: Clin Genet doi: 10.1111/j.1399-0004.2010.01596.x contributor: fullname: J McDonald – volume: 361 start-page: 13 year: 2005 ident: 350_CR26 publication-title: Gene doi: 10.1016/j.gene.2005.06.037 contributor: fullname: M Kozak – volume: 8 start-page: 2171 issue: 12 year: 1999 ident: 350_CR34 publication-title: Hum Mol Gen doi: 10.1093/hmg/8.12.2171 contributor: fullname: N Pece-Barbara – volume: 277 start-page: 29197 issue: 32 year: 2002 ident: 350_CR24 publication-title: J Biol Chem doi: 10.1074/jbc.M111991200 contributor: fullname: M Guerrero-Esteo – volume: 92 start-page: 4677 issue: 12 year: 1998 ident: 350_CR21 publication-title: Blood doi: 10.1182/blood.V92.12.4677 contributor: 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contributor: fullname: AG Pedersen – volume: 363 start-page: 852 issue: 9412 year: 2004 ident: 350_CR16 publication-title: Lancet doi: 10.1016/S0140-6736(04)15732-2 contributor: fullname: CJ Gallione – volume: 21 start-page: 482 year: 2003 ident: 350_CR32 publication-title: Hum Mutat doi: 10.1002/humu.10203 contributor: fullname: U Cymerman – volume: 23 start-page: 2340 year: 1993 ident: 350_CR23 publication-title: Eur J Immunol doi: 10.1002/eji.1830230943 contributor: fullname: T Bellon – volume: 21 start-page: 128 issue: 1 year: 1999 ident: 350_CR39 publication-title: Nat Genet doi: 10.1038/5082 contributor: fullname: L Lui – volume: 9 start-page: 75 year: 2008 ident: 350_CR11 publication-title: BMC Med Genet doi: 10.1186/1471-2350-9-75 contributor: fullname: A Fontalba – volume: 1808 start-page: 912 issue: 3 year: 2011 ident: 350_CR28 publication-title: Biochim Biophys Acta doi: 10.1016/j.bbamem.2010.06.015 contributor: fullname: R Zimmermann – volume: 43 start-page: 722 issue: 9 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Snippet | Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of... Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and... Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The... Abstract Background: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and... BACKGROUNDHereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The... BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The... Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and... |
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SubjectTerms | 5' Untranslated Regions - genetics 5'UTR region Adolescent Adult Aged Animals Antigens, CD - chemistry Antigens, CD - genetics Base Sequence c.-127C > T c.-9G > A Care and treatment Child Child, Preschool COS Cells Diagnosis Endoglin ENG Female Gene mutations Genetic aspects homozygous Humans Male Medical research Middle Aged Molecular Sequence Data Mutation - genetics Physiological aspects Rare diseases Receptors, Cell Surface - chemistry Receptors, Cell Surface - genetics Risk factors Sequence Analysis, DNA Telangiectasia, Hereditary Hemorrhagic Telangiectasia, Hereditary Hemorrhagic - genetics Transfection |
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Title | 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia |
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