Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
Bienvenu
T
T
Beldjord
C
C
Adjiman
M
M
Kaplan
J C
JC
D000328:Adult; D001120:Arginine / Q000235:genetics; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006720:Homozygote; D006801:Humans; D007248:Infertility, Male / Q000209:etiology* / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D017354:Point Mutation; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D001120:Arginine