Gaucher disease mutations in non-Jewish patients.

Abstract excerpt

The DNA from 64 non-Jewish patients with Gaucher disease was examined for 29 different glucocerebrosidase mutations that are known to cause the disease. The most common was mutation 1448C and the second most common 1226G. Twenty of the mutations remained unidentified. These results were compared to those obtained from 122 Jewish patients, in whom the most common mutations were 1226G and 84GG. Among the non-Jewish...

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