title: Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
authors.affiliation: Laboratory of Biochemical Genetic, INSERM U467, Groupe Hospitalier Necker Enfants-Malades, 149 rue de S¿vres 75743 Paris Cedex 15, France.
authors.forename: M N
authors.initials: MN
authors.lastname: Feuillet-Fieux
authors.forename: I
authors.initials: I
authors.lastname: Sermet
authors.forename: A
authors.initials: A
authors.lastname: Edelman
authors.forename: T
authors.initials: T
authors.lastname: Torossi
authors.forename: M
authors.initials: M
authors.lastname: Ferrec
authors.forename: M
authors.initials: M
authors.lastname: Guillot
authors.forename: G
authors.initials: G
authors.lastname: Lenoir
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: L
authors.initials: L
authors.lastname: Thuillier
mesh_terms: D000293:Adolescent; D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D009154:Mutation / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator