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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Bibliographic Details
Main Authors: Lavanya Rishishwar, Neha Varghese, Eishita Tyagi, Stephen C Harvey, I King Jordan, Nael A McCarty
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3413703?pdf=render