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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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Acesso em linha: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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