Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect

PURPOSE: The genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of non-syndromic individuals with AVSD. METHODS: Whole exome sequencing was performed in 81 unrelated probands with AVSD...

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書誌詳細
出版年:Genet Med
主要な著者: D’Alessandro, Lisa C.A., Al Turki, Saeed, Manickaraj, Ashok Kumar, Manase, Dorin, Mulder, Barbara J.M., Bergin, Lynn, Rosenberg, Herschel C., Mondal, Tapas, Gordon, Elaine, Lougheed, Jane, Smythe, John, Devriendt, Koen, Bhattacharya, Shoumo, Watkins, Hugh, Bentham, Jamie, Bowdin, Sarah, Hurles, Matthew E., Mital, Seema
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5988035/
https://ncbi.nlm.nih.gov/pubmed/25996639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.60
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