A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male.
Padoan
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Centro di Riferimento Regionale per la Fibrosi Cistica, Università degli Studi, Milano.
Costantini
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D
Russo
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MC
Ambrosioni
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A
Fiori
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S
Prandoni
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Cantù-Rajnoldi
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A
Seia
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M
Giunta
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A
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D000818:Animals; D003545:Cysteine / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D020125:Mutation, Missense / Q000235:genetics*; D051381:Rats; D014443:Tyrosine / Q000235:genetics
D018528:ATP-Binding Cassette Transporters; C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014443:Tyrosine; D003545:Cysteine