The ΔF508 Mutation Causes CFTR Misprocessing and Cystic Fibrosis-Like Disease in Pigs

Mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel cause the autosomal recessive disease, cystic fibrosis (CF). The most common mutation is ΔF508, which deletes phenylalanine508. In vitro studies indicate that CFTR-ΔF508 is misprocessed, thoug...

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Detalhes bibliográficos
Main Authors: Ostedgaard, Lynda S, Meyerholz, David K, Chen, Jeng-Haur, Pezzulo, Alejandro A, Karp, Philip H, Rokhlina, Tatiana, Ernst, Sarah E, Hanfland, Robert A, Reznikov, Leah R, Ludwig, Paula S, Rogan, Mark P, Davis, Greg J, Dohrn, Cassie L, Wohlford-Lenane, Christine, Taft, Peter J, Rector, Michael V, Hornick, Emma, Nassar, Boulos S, Samuel, Melissa, Zhang, Yuping, Richter, Sandra S, Uc, Aliye, Shilyansky, Joel, Prather, Randall S, McCray, Paul B, Zabner, Joseph, Welsh, Michael J, Stoltz, David A
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3119077/
https://ncbi.nlm.nih.gov/pubmed/21411740
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3001868
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