Article
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.
Human molecular genetics - 1 Apr 1998
Mickle J E, Macek M, Fulmer-Smentek S B, Egan M M, Schwiebert E, Guggino W, Moss R, Cutting G R
Abstract excerpt
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been shown to cause cystic fibrosis (CF) and male infertility due to congenital bilateral absence of the vas deferens. We report the identification of a 6.8 kb deletion (del14a) and a nonsense mutation (S1455X) in th...
Topics
- Child
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Humans
- Middle Aged
- Mutation
- Pedigree
- RNA, Messenger
- Sweat