Cystic fibrosis with three mutations in
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene
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Thilo DΓΆrk; Ulrich Wulbrand; Thomas Richter; Thomas Neumann; Heiner Wolfes; Brig
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Article
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1991
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Springer
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English
β 709 KB
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