title: Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
authors.affiliation: Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Chillón
authors.forename: T
authors.initials: T
authors.lastname: Casals
authors.forename: V
authors.initials: V
authors.lastname: Nunes
authors.forename: J
authors.initials: J
authors.lastname: Giménez
authors.forename: E
authors.initials: E
authors.lastname: Pérez Ruiz
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: 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
chemical_list: C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator