A frame-shift mutation in the cystic fibrosis gene.

doi:10.1038/344665a0

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Article

A frame-shift mutation in the cystic fibrosis gene.

Nature - 12 Apr 1990

White M B, Amos J, Hsu J M, Gerrard B, Finn P, Dean M

Abstract excerpt

Cystic fibrosis (CF) is a common recessive lethal genetic disorder, affecting 1 in 1,600 Caucasians. The disease causes defective regulation of chloride-ion transport in exocrine cells. Although in all CF families the disease is linked to a locus on chromosome 7q31, there is clinical heterogeneit...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Chromosomes, Human, Pair 7
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Heterozygote
Humans
Membrane Proteins
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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