Article
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.
Human mutation - 1 Jan 1996
Hughes D J, Hill A J, Macek M, Redmond A O, Nevin N C, Graham C A
Abstract excerpt
A variety of mutation detection techniques, including restriction endonuclease digestion, allele specific oligonucleotides, and automated fluorescent sequencing, were used in the identification of 15 CFTR mutations representing 86.7% of CF chromosomes in 206 Northern Irish cystic fibrosis (CF) fa...
Topics
- Alleles
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Transposable Elements
- Exons
- Humans
- Introns
- Mutation
- Northern Ireland
- Oligodeoxyribonucleotides
- Point Mutation
- Polymorphism, Genetic
- Restriction Mapping
- Sequence Deletion
- Spectrometry, Fluorescence