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Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations

✍ Scribed by Michael Wilschanski; Julian Zielenski; Danuta Markiewicz; Lap-Chee Tsui; Mary Corey; Henry Levison; Peter R. Durie


Book ID
117164771
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
541 KB
Volume
127
Category
Article
ISSN
1097-6833

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Three mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene were discovered in a pancreas-insufficient patient with cystic fibrosis (CF) who displayed an uncommon combination of almost normal chloride concentration in sweat tests and typical symptoms of gastrointestinal an