Article
[Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
TSitologiia i genetika - 1 Jan 2000
Horovenko N H, Ol'khovych N V, Nedoboĭ A M, Pichkur N O
Abstract excerpt
The molecular diagnostics of 27 from 26 Ukrainian families has been performed. The common mutations in GBA gene (N370S, L444P and 84GG) accounted for up to 58% of all cases: mutation N370S was detected in 42.3% alleles, mutation L444P was observed in 15.4% alleles and mutation 84GG was not found at all. The other mutations were: P178S, W184R and Rec Nci I (in compounds with N370S) in the patients with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.