Article
Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
The Journal of clinical investigation - 1 Sept 1992
Chu C S, Trapnell B C, Curristin S M, Cutting G R, Crystal R G
Abstract excerpt
Cystic fibrosis (CF) is a recessive hereditary disorder, requiring both parental cystic fibrosis conductance transmembrane regulator (CFTR) genes to carry mutations for clinical disease to manifest, i.e., only 50% of normal CFTR gene expression is required to maintain a normal phenotype. To help...
Topics
- Adult
- Alleles
- Base Sequence
- Bronchi
- Chromosome Deletion
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Female
- Humans
- Male
- Membrane Proteins
- Middle Aged
- Molecular Sequence Data