Article
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
American journal of human genetics - 1 Jan 1997
Rave-Harel N, Kerem E, Nissim-Rafinia M, Madjar I, Goshen R, Augarten A, Rahat A, Hurwitz A, Darvasi A, Kerem B
Abstract excerpt
The splicing variant, 5T allele, in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was shown to be associated with partial penetrance of the clinical expression. This splicing variant leads to two possible transcripts: one normal and the other aberrantly spliced t...
Topics
- Adolescent
- Adult
- Alleles
- Cystic Fibrosis
- Epididymis
- Epithelium
- Female
- Humans
- Male
- Mutation
- Nasal Mucosa
- Phenotype
- RNA Splicing