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Article

Relating the disease mutation spectrum to the evolution of the cystic fibrosis transmembrane conductance regulator (CFTR).

PloS one - 1 Jan 2012

Rishishwar Lavanya, Varghese Neha, Tyagi Eishita, Harvey Stephen C, Jordan I King, McCarty Nael A

Abstract excerpt

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, we took advantage of that wealth of mutational information in an effort to relate site-specific evolutionary...

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Source

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Identifiers

PMID: 22879944
DOI: 10.1371/journal.pone.0042336
PMCID: PMC3413703

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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