Article
Assessing the Disease-Liability of Mutations in CFTR.
Cold Spring Harbor perspectives in medicine - 1 Dec 2012
Ferec Claude, Cutting Garry R
Abstract excerpt
Over 1900 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR), the gene defective in patients with cystic fibrosis. These mutations have been discovered primarily in individuals who have features consistent with the diagnosis of CF. In some cases, it has been recognized that the mutations are not causative of cystic fibrosis but are responsible for disorders with...
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