Article
beta-adrenergic sweat responses in cystic fibrosis heterozygotes with and without the delta F508 allele.
Pediatric research - 1 Jun 1991
Johnson J P, Louie E, Lewiston N J, Wine J J
Abstract excerpt
Cystic fibrosis (CF) causes early death for most homozygotes, yet has a carrier frequency among Caucasians of about 4-5%, suggesting a heterozygote advantage. The major defect in the CF gene is a three-base deletion leading to loss of a phenylalanine residue at position 508 (delta F508) that acco...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- DNA
- Female
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Receptors, Adrenergic, beta
- Receptors, Cholinergic
- Sweating