Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR.
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.
Dörk
T
T
Department of Biochemistry, Medizinische Hochschule, Hannover, Germany.
Wulbrand
U
U
Steinkamp
G
G
Tümmler
B
B
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
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004262:DNA Restriction Enzymes