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Relating the Disease Mutation Spectrum to the Evolution of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Cystic fibrosis (CF) is the most common genetic disease among Caucasians, and accordingly the cystic fibrosis transmembrane conductance regulator (CFTR) protein has perhaps the best characterized disease mutation spectrum with more than 1,500 causative mutations having been identified. In this study...

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Detalhes bibliográficos
Main Authors: Rishishwar, Lavanya, Varghese, Neha, Tyagi, Eishita, Harvey, Stephen C., Jordan, I. King, McCarty, Nael A.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3413703/
https://ncbi.nlm.nih.gov/pubmed/22879944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0042336
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