Article
Establishing a diagnosis of cystic fibrosis.
Chronic respiratory disease - 1 Jan 2004
Southern K W, Peckham D
Abstract excerpt
Cystic fibrosis (CF) is a recessively inherited condition caused by mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Characterization of the genetic defect has improved understanding of the condition and, in the majority of cases, diagnosis is straightforward. However, in a significant number, diagnosis remains a challenge. This paper will discuss the management of these issues and...
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