Article
Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR.
Acta paediatrica (Oslo, Norway : 1992) - 1 Jan 1992
Dörk T, Wulbrand U, Steinkamp G, Tümmler B
Abstract excerpt
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 fi...
Topics
- Adult
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Restriction Enzymes
- Exons
- Female
- Genes, Regulator
- Heterozygote
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction