Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR

T Dörk; U Wulbrand; G Steinkamp; B Tümmler

doi:10.1111/j.1651-2227.1992.tb12086.x

Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR

Acta Paediatr. 1992 Jan;81(1):82-3. doi: 10.1111/j.1651-2227.1992.tb12086.x.

Authors

T Dörk¹, U Wulbrand, G Steinkamp, B Tümmler

Affiliation

¹ Department of Biochemistry, Medizinische Hochschule, Hannover, Germany.

PMID: 1376182
DOI: 10.1111/j.1651-2227.1992.tb12086.x

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.

MeSH terms

Adult
Base Sequence
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Restriction Enzymes / genetics
Exons
Female
Genes, Regulator
Heterozygote
Humans
Membrane Proteins / genetics*
Molecular Sequence Data
Mutation*
Polymerase Chain Reaction

Substances

CFTR protein, human
Membrane Proteins
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Restriction Enzymes