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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Detalles Bibliográficos
Autores principales: Rishishwar, Lavanya, Varghese, Neha, Tyagi, Eishita, Harvey, Stephen C., Jordan, I. King, McCarty, Nael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413703/
https://www.ncbi.nlm.nih.gov/pubmed/22879944
http://dx.doi.org/10.1371/journal.pone.0042336

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