Mild CF phenotype associated with T3381 missense mutation.
Padoan
R
R
Seia
M
M
Cremonesi
L
L
Giunta
A
A
D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009152:Mutagenicity Tests; D009154:Mutation; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator