Xp22.3 microdeletions in three Chinese families with X-linked ichthyosis
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Published in | Journal of dermatological science Vol. 55; no. 3; pp. 193 - 195 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
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Netherlands
Elsevier Ireland Ltd
01.09.2009
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Author | Shang, Dan-Dan Liu, An Xiao, Sheng-Xiang Du, Li Zhang, Xue Jiang, Wei-Ying |
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References | Bonifas, Morley, Okey, Kan, Epstein (bib2) 1987; 84 Gu, Zhang, Lupski (bib9) 2008; 1 Jimenez Vaca, Valdes-Flores, Rivera-Vega, Gonzalez-Huerta, Kofman-Alfaro, Cuevas-Covarrubias (bib7) 2001; 7 Myers, Freeman, Auton, Donnelly, McVean (bib5) 2008; 40 Maya-Nunez, Covarrubias, Zenteno, Ulloa-Aguirre, Kofman-Alfaro, Mendez (bib8) 1998; 48 Ballabio, Bardoni, Carrozzo, Andria, Bick, Campbell (bib3) 1989; 86 Van Esch, Hollanders, Badisco, Melotte, Van Hummelen, Vermeesch (bib4) 2005; 14 Webster, France, Shapiro, Weiss (bib1) 1978; 1 Yen, Li, Tsai, Johnson, Mohandas, Shapiro (bib6) 1990; 61 |
References_xml | – volume: 86 start-page: 10001 year: 1989 end-page: 10005 ident: bib3 article-title: Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome publication-title: Proc Natl Acad Sci USA contributor: fullname: Campbell – volume: 84 start-page: 9248 year: 1987 end-page: 9251 ident: bib2 article-title: Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with X recessive chromosome-linked ichthyosis publication-title: Proc Natl Acad Sci USA contributor: fullname: Epstein – volume: 14 start-page: 1795 year: 2005 end-page: 1803 ident: bib4 article-title: Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis publication-title: Hum Mol Genet contributor: fullname: Vermeesch – volume: 1 start-page: 70 year: 1978 end-page: 72 ident: bib1 article-title: X-linked ichthyosis due to steroid-sulphatase deficiency publication-title: Lancet contributor: fullname: Weiss – volume: 1 start-page: 4 year: 2008 ident: bib9 article-title: Mechanisms for human genomic rearrangements publication-title: Pathogenetics contributor: fullname: Lupski – volume: 61 start-page: 603 year: 1990 end-page: 610 ident: bib6 article-title: Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements publication-title: Cell contributor: fullname: Shapiro – volume: 7 start-page: 845 year: 2001 end-page: 849 ident: bib7 article-title: Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population publication-title: Mol Med contributor: fullname: Cuevas-Covarrubias – volume: 48 start-page: 713 year: 1998 end-page: 718 ident: bib8 article-title: Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulfatase gene publication-title: Clin Endocr contributor: fullname: Mendez – volume: 40 start-page: 1124 year: 2008 end-page: 1129 ident: bib5 article-title: A common sequence motif associated with recombination hot spots and genome instability in humans publication-title: Nat Genet contributor: fullname: McVean |
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SubjectTerms | Base Sequence China Chromosomes, Human, X - genetics Dermatology Female Humans Ichthyosis, X-Linked - genetics Ichthyosis, X-Linked - pathology Male Molecular Sequence Data Pedigree Sequence Deletion - genetics |
Title | Xp22.3 microdeletions in three Chinese families with X-linked ichthyosis |
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