Article
Reaching the diagnosis of cystic fibrosis--the limits of the spectrum.
The Israel Medical Association journal : IMAJ - 1 Feb 2000
Lotem Y, Barak A, Mussaffi H, Shohat M, Wilschanski M, Sivan Y, Blau H
Abstract excerpt
BACKGROUND: Cystic fibrosis is the most common life-limiting autosomal recessive genetic disorder in Caucasians. Typically it is a multisystem disease diagnosed by increased chloride levels on sweat testing, with mortality due mainly to progressive respiratory disease. The clinical spectrum of CF has recently been much expanded. Genetic testing for mutant CF transmembrane regulator has revealed atypical cases...
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