CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR

BACKGROUND: Patients with cystic fibrosis (CF) manifest a multisystem disease due to deleterious mutations in each gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). However, the role of dysfunctional CFTR is uncertain in individuals with mild forms of CF (ie, pancreatic s...

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Main Authors: Sheridan, Molly B, Hefferon, Timothy W, Wang, Nulang, Merlo, Christian, Milla, Carlos, Borowitz, Drucy, Green, Eric D, Mogayzel, Peter J, Cutting, Garry R
Format: Artigo
Language:Inglês
Published: 2010
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3065505/
https://ncbi.nlm.nih.gov/pubmed/21097845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.083287
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