title: Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR.
abstract: The mild clinical course of a patient with cystic fibrosis is presented who inherited the two mutations Gly551----Asp and Arg553----Stop in the cystic fibrosis transmembrane conductance regulator gene. The missense mutation Arg553----Stop discovered in American Blacks is also present on cystic fibrosis chromosomes of Caucasian ancestry.
authors.affiliation: Department of Biochemistry, Medizinische Hochschule, Hannover, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Dörk
authors.forename: U
authors.initials: U
authors.lastname: Wulbrand
authors.forename: G
authors.initials: G
authors.lastname: Steinkamp
authors.forename: B
authors.initials: B
authors.lastname: Tümmler
mesh_terms: D000328:Adult; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004262:DNA Restriction Enzymes / Q000235:genetics; D005091:Exons; D005260:Female; D005809:Genes, Regulator; D006579:Heterozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004262:DNA Restriction Enzymes