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Mia Horowitz, Metsada Pasmanik-Chor, Zvi Borochowitz, Tzipora Falik-Zaccai, Keren Heldmann, Rivka Carmi, Ruth Parvari, Hannah Beit-Or, Boleslav Goldman, Lea Peleg, Ephrat Levy-Lahad, Paul Renbaum, Searl Legum, Ruth Shomrat, Hannah Yeger, Dalit Benbenisti, Ruth Navon, Vardit Dror, Mordechai Shohat, Nurit Magal, Nir Navot, and Nurit Eyal. 1998. Prevalance of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum Mutat 12:240-244.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 54 KB
Volume: 13
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1999)13:3<255::aid-humu10>3.0.co;2-v

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Prevalence of glucocerebrosidase mutatio

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

✍ Mia Horowitz; Metsada Pasmanik-Chor; Zvi Borochowitz; Tzipora Falik-Zaccai; Kere 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 302 KB 👁 2 views

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 Jew