Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency

Cystic fibrosis (CF) is a monogenetic disease with a complex phenotype. Over 1500 mutations in the CFTR gene have been identified; however, the p.F508del mutation is most common. There has been limited correlation between the CFTR mutation genotype and the disease phenotypes. We evaluated the non-p....

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Bibliografiske detaljer
Udgivet i:Clin Genet
Main Authors: Sebro, R, Levy, H, Schneck, K, Dimmock, D, Raby, BA, Cannon, CL, Broeckel, U, Risch, NJ
Format: Artigo
Sprog:Inglês
Udgivet: 2011
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4279028/
https://ncbi.nlm.nih.gov/pubmed/22035343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2011.01804.x
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