Article
[The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].
Bratislavske lekarske listy - 1 Jan 1998
Kádasi L, Poláková H, Zatková A, Kayserová H, Hruskovic I
Abstract excerpt
Up to present, more than 500 mutations have been described in the CFTR gene of patients affected by cystic fibrosis (CF). The vast majority of them, however, are extremely rare, and in fact, were detected only in the original reported cases. This study is aimed at analysis of 9 known mutations in...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Humans
- Mutation
- Polymerase Chain Reaction
- Slovakia