Article
Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.
Human mutation - 1 Jan 1994
Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A
Abstract excerpt
Cystic fibrosis patients referred to two genetics centres in southern England and not found to carry common CF-associated mutations in one or both of their CFTR genes have been subjected to an extensive mutation search. The whole of the coding region of the CFTR gene, all intron-exon boundaries and 5' and 3' untranslated regions have been examined by a combination of single stranded conformational polymorphism...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- England
- Gene Frequency
- Genes
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation