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Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation
Hodgson-Zingman, Denice M, Karst, Margaret L, Zingman, Leonid V, Heublein, Denise M, Darbar, Dawood, Herron, Kathleen J, Ballew, Jeffrey D, de Andrade, Mariza, Burnett, John C, Olson, Timothy M
Published in The New England journal of medicine (10.07.2008)
Published in The New England journal of medicine (10.07.2008)
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Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts
Hao, Xiao-Dan, Yao, Yi-Zhi, Xu, Kai-Ge, Dong, Bin, Xu, Wen-Hua, Zhang, Jing-Jing
Published in Investigative ophthalmology & visual science (01.12.2022)
Published in Investigative ophthalmology & visual science (01.12.2022)
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Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D
Bortolini, Mariza, Winkler, Paige A., Moreno, Juan Carlos Duque, Sato, Mario Teruo, Guareschi, Bianca Luiza Valduga, Petersen‐Jones, Simon M., Montiani‐Ferreira, Fabiano
Published in Veterinary ophthalmology (01.11.2023)
Published in Veterinary ophthalmology (01.11.2023)
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A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome
Tonelli, Francesco, Giudici, Francesco, Giusti, Francesca, Marini, Francesca, Cianferotti, Luisella, Nesi, Gabriella, Brandi, Maria Luisa
Published in European journal of endocrinology (01.08.2014)
Published in European journal of endocrinology (01.08.2014)
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A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss
Liang, Jingwen, Yu, Zhuoheng, Wang, Zhangxing, Chen, Jianxia, Liu, Yihuan, Yin, Zhaoqing, Xu, Ruihuan
Published in Frontiers in pediatrics (09.12.2022)
Published in Frontiers in pediatrics (09.12.2022)
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A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
Rahbaran, Marzieh, Hassani Doabsari, Maryam, Salavitabar, Simindokht, Mokhberian, Neda, Morovvati, Ziba, Morovvati, Saeid
Published in Cellular & molecular biology letters (19.08.2019)
Published in Cellular & molecular biology letters (19.08.2019)
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Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1
Abdalla-Moady, Tameemi, Peleg, Amir, Sadeh, Orit, Badarneh, Khader, Fares, Fuad
Published in Molecular neurobiology (01.04.2018)
Published in Molecular neurobiology (01.04.2018)
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Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome
Shen, Tao, Gao, Jian-Mei, Shou, Tao, Li, Li, Zhang, Jin-Ping, Zhao, Qian, Yan, Xin-Min
Published in Journal of the Chinese Medical Association (01.02.2019)
Published in Journal of the Chinese Medical Association (01.02.2019)
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Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree
Zhang, Lu-Si, Li, Hai-Bo, Zeng, Jun, Yang, Yan, Ding, Chun
Published in International journal of ophthalmology (18.06.2018)
Published in International journal of ophthalmology (18.06.2018)
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A novel fibrinogen B beta chain frameshift mutation causes congenital afibrinogenaemia
Zhang, Jian, Zhao, Xiaojuan, Wang, Zhaoyue, Yu, Ziqiang, Cao, Lijuan, Zhang, Wei, Bai, Xia, Ruan, Changgeng
Published in Thrombosis and haemostasis (01.07.2013)
Published in Thrombosis and haemostasis (01.07.2013)
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Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β
BINGHAM, C, ELLARD, S, RYFFEL, G. U, NICHOLLS, A. J, HATTERSLEY, A. T, ALLEN, L, BULMAN, M, SHEPHERD, M, FRAYLING, T, BERRY, P. J, CLARK, P. M, LINDNER, T, BELL, G. I
Published in Kidney international (01.03.2000)
Published in Kidney international (01.03.2000)
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A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia
Miura, Shiroh, Morikawa, Takuya, Fujioka, Ryuta, Kosaka, Kengo, Yamada, Kohei, Hattori, Gohsuke, Motomura, Manabu, Taniwaki, Takayuki, Shibata, Hiroki
Published in European journal of medical genetics (01.08.2016)
Published in European journal of medical genetics (01.08.2016)
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A Frameshift Mutation in RPGR Exon ORF15 Causes Photoreceptor Degeneration and Inner Retina Remodeling in a Model of X-Linked Retinitis Pigmentosa
Beltran, William A, Hammond, Pamela, Acland, Gregory M, Aguirre, Gustavo D
Published in Investigative ophthalmology & visual science (01.04.2006)
Published in Investigative ophthalmology & visual science (01.04.2006)
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A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia
Jiang, Fan, Huang, Lv-Yin, Chen, Gui-Lan, Zhou, Jian-Ying, Xie, Xing-Mei, Li, Dong-Zhi
Published in Hemoglobin (02.01.2017)
Published in Hemoglobin (02.01.2017)
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Common CCR5-del32 Frameshift Mutation Associated With Serum Levels of Inflammatory Markers and Cardiovascular Disease Risk in the Bruneck Population
Afzal, Ali R., Kiechl, Stefan, Daryani, Yousef P., Weerasinghe, Arusha, Zhang, Yang, Reindl, Markus, Mayr, Agnes, Weger, Siegfried, Xu, Qingbo, Willeit, Johann
Published in Stroke (1970) (01.07.2008)
Published in Stroke (1970) (01.07.2008)
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Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1
Karadža-Lapić, Ljerka, Korošec, Peter, Šilar, Mira, Košnik, Mitja, Cikojević, Draško, Lozić, Bernarda, Rijavec, Matija
Published in Annals of medicine (Helsinki) (02.10.2016)
Published in Annals of medicine (Helsinki) (02.10.2016)
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Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
Hussain, Muhammad Sajid, Battaglia, Agatino, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi, Altmüller, Janine, Thiele, Holger, Nürnberg, Gudrun, Moosa, Shahida, Yigit, Gökhan, Beleggia, Filippo, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda, Brancati, Francesco, Dobbie, Angus, Śmigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G., Nürnberg, Peter
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family
Palayil, Isham, Priya, S, Sivan, N, Madhivanan, Nivean, Venkatachalam, Panneer, Jagadeesan, Madhavan
Published in Indian journal of ophthalmology (01.02.2018)
Published in Indian journal of ophthalmology (01.02.2018)
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First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene
Jouali, Farah, Laarabi, Fatima-Zahra, Marchoudi, Nabila, Ratbi, Ilham, Elalaoui, Siham Chafai, Rhaissi, Houria, Fekkak, Jamal, Sefiani, Abdelaziz
Published in Oncology letters (01.08.2016)
Published in Oncology letters (01.08.2016)
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