Article
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
Human genetics - 1 Feb 1998
Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui L C, Kirdar B
Abstract excerpt
In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analyse...
Topics
- Adenine
- Amino Acid Substitution
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Cytosine
- Frameshift Mutation
- Humans
- Isoleucine
- Leucine
- Methionine
- Mutation
- Polymorphism, Genetic
- Proline
- Sequence Deletion
- Turkey