title: Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.
authors.affiliation: Laboratoire de Biochimie Génétique, Institut de Biologie Inserm U249, CNRS UPR 9008, Grepam, 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: Ray
authors.forename: P
authors.initials: P
authors.lastname: Godard
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008297:Male
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator