Article
Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene.
Biochemical medicine and metabolic biology - 1 Apr 1994
Potapova OYu, Voronina O V, Gaitskhoki V S, Bogacheva E V, Uembitskaya T E, Kuprina E A, Kapranov N I, Berlin YuA, Schwartz E I
Abstract excerpt
The linkage of the intragenic polymorphic (GATT)n repeat to a number of cystic fibrosis transmembrane conductance regulator gene mutations (delta F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of delta F-508, G542X, and N1303K to a six-copy allele a...
Topics
- Alleles
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genetic Linkage
- Humans
- Introns
- Membrane Proteins
- Mutation
- Repetitive Sequences, Nucleic Acid