Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens.
Ravnik-Glavac
M
M
Institute of Pathology, Laboratory of Molecular Genetics, University of Ljubljana, Slovenia. ravnik@ibmi.mf.uni-lj.si
Dean
M
M
Glavac
D
D
D001120:Arginine / Q000235:genetics; D015331:Cohort Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons; D005998:Glycine / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000151:congenital / Q000235:genetics; D008297:Male; D008715:Methionine / Q000235:genetics; D020125:Mutation, Missense; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D001120:Arginine; D008715:Methionine; D005998:Glycine