Age Estimate of the N370S Mutation Causing Gaucher Disease in Ashkenazi Jews and European Populations: A Reappraisal of Haplotype Data
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference29 articles.
1. Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese;Amaral;Hum Mutat,1996
2. A historical atlas of the Jewish people,1992
3. Atlas of medieval Jewish history;Beirnart,1992
4. Measuring the strength of associations between HLA antigens and diseases;Bengtsson;Tissue Antigens,1981
5. Mutations in Jewish patients with Gaucher disease;Beutler;Blood,1992
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