title: A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
abstract: We report the identification of a new frameshift mutation (936delTA) in exon 6b of the CFTR gene. In the screening of 486 unrelated Spanish CF patients we found a patient homozygous for 936delTA (with consanguineous parents) and a patient heterozygous for delta F508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.
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: J
authors.initials: J
authors.lastname: Giménez
authors.forename: V
authors.initials: V
authors.lastname: Nunes
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D001483:Base Sequence; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers