Article
A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
Human mutation - 1 Jan 1994
Dörk T, Will K, Grade K, Krawczak M, Tümmler B
Abstract excerpt
Cystic fibrosis, a common recessive disorder of exocrine glands, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the identification of a 32-bp deletion within the coding region of CFTR that involves the nucleotides 2991-3022 in exon 15 (2...
Topics
- Adolescent
- Adult
- Alleles
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Primers
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Phenotype
- Polymerase Chain Reaction
- RNA, Messenger
- Sequence Deletion