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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Publicado no:Genet Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha: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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