Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits

Extensive phenotypic variability is commonly observed in individuals with Mendelian disorders, even among those with identical genotypes in the disease-causing gene. To determine whether variants within and surrounding CFTR contribute to phenotypic variability in cystic fibrosis (CF), we performed d...

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Publicado en:Hum Genome Var
Autores principales: Vecchio-Pagán, Briana, Blackman, Scott M, Lee, Melissa, Atalar, Melis, Pellicore, Matthew J, Pace, Rhonda G, Franca, Arianna L, Raraigh, Karen S, Sharma, Neeraj, Knowles, Michael R, Cutting, Garry R
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121184/
https://ncbi.nlm.nih.gov/pubmed/27917292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.38
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