Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
Chillón
M
M
Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain.
Casals
T
T
Nunes
V
V
Giménez
J
J
Pérez Ruiz
E
E
Estivill
X
X
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005796:Genes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D014649:Vas Deferens / Q000002:abnormalities
C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator