Article
Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.
Lancet (London, England) - 3 Jul 1993
Augarten A, Kerem B S, Yahav Y, Noiman S, Rivlin Y, Tal A, Blau H, Ben-Tur L, Szeinberg A, Kerem E
Abstract excerpt
Different mutations in the cystic fibrosis (CF) gene appear to contribute to heterogeneity of the CF phenotype. We investigated 15 patients with CF who have the 3849 + 10 kb C-->T mutation. All were Ashkenazi Jews. Their clinical features were compared with those of CF patients with the delta F50...
Topics
- Age Factors
- Child
- Chlorides
- Cystic Fibrosis
- Female
- Humans
- Male
- Phenotype
- Point Mutation
- Sweat