Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.

@article{Horowitz1998PrevalenceOG,
  title={Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.},
  author={Mia Horowitz and Metzada Pasmanik-Chor and Zvi U. Borochowitz and Tzipora C Falik-Zaccai and K Heldmann and Rivka Carmi and Ruti Parvari and H Beit-Or and Boleslaw Goldman and Leah Peleg and Ephrat Levy-Lahad and Paul Renbaum and S Legum and Ruth Shomrat and Herman Yeger and D Benbenisti and Ruth Navon and Vardit Dror and Mordechai Shohat and Nurit Magal and Nir Navot and Nurit Eyal},
  journal={Human mutation},
  year={1998},
  volume={12 4},
  pages={240-4}
}
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 Jewish population in Israel, 1,208 individuals were… CONTINUE READING