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Recent Advances in Understanding and Managing Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction

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Journal F1000Prime Rep
Date 2015 Jun 23
PMID 26097737
Citations 9
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Abstract

Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians and has been extensively studied for many decades. The cystic fibrosis transmembrane conductance regulator gene was identified in 1989. It encodes a complex protein which has numerous cellular functions. Our understanding of cystic fibrosis pathophysiology and genetics is constantly expanding and being refined, leading to improved management of the disease and increased life expectancy in affected individuals.

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