Article
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
Human mutation - 1 Jan 1998
Horowitz M, Pasmanik-Chor M, Borochowitz Z, Falik-Zaccai T, Heldmann K, Carmi R, Parvari R, Beit-Or H, Goldman B, Peleg L, Levy-Lahad E, Renbaum P, Legum S, Shomrat R, Yeger H, Benbenisti D, Navon R, Dror V, Shohat M, Magal N, Navot N, Eyal N
Abstract excerpt
Gaucher disease is the most prevalent inherited disease among Ashkenazi Jews. It is very heterogeneous due to a large number of mutations within the glucocerebrosidase gene, whose impaired activity is the cause for this disease. Aiming at determining Gaucher carrier frequency among the Ashkenazi...
Topics
- Cells, Cultured
- Female
- Fibroblasts
- Gaucher Disease
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Glucosylceramidase
- Humans
- Israel
- Jews
- Male
- Molecular Probe Techniques
- Mutation