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Compound genetic abnormalities in patients with cystic fibrosis transmembrane regulator gene mutation

✍ Scribed by Edward Karpman; Daniel H. Williams IV; Sidney Wilberforce; Larry I. Lipshultz


Book ID
116469450
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
75 KB
Volume
87
Category
Article
ISSN
1556-5653

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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