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Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis

✍ Scribed by Liesbet Henckaerts; Martine Jaspers; Werner Van Steenbergen; Liesbet Vliegen; Johan Fevery; Hilde Nuytten; Tania Roskams; Paul Rutgeerts; Jean-Jacques Cassiman; Séverine Vermeire; Harry Cuppens

Book ID
116651700
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
228 KB
Volume
50
Category
Article
ISSN
0168-8278

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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