title: Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.
authors.affiliation: Laboratoire de Biochimie Génétique, CNRS UPR-9008, INSERM U249, Institut de Biologie, Montpellier, France.
authors.forename: M C
authors.initials: MC
authors.lastname: Romey
authors.forename: M
authors.initials: M
authors.lastname: Desgeorges
authors.forename: P
authors.initials: P
authors.lastname: Malzac
authors.forename: J
authors.initials: J
authors.lastname: Sarles
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D001136:Armenia / Q000208:ethnology; D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005006:Ethnicity / Q000235:genetics; D005091:Exons; D005260:Female; D005602:France; D005796:Genes; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator