Article
Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.
American journal of medical genetics - 1 Mar 2001
Park J K, Koprivica V, Andrews D Q, Madike V, Tayebi N, Stone D L, Sidransky E
Abstract excerpt
While the inherited deficiency of the enzyme glucocerebrosidase (Gaucher disease) is panethnic in its distribution, there have not been studies of the mutations encountered in specific ethnic groups in the United States, other than those on Ashkenazi Jews. We present the clinical descriptions and genotypes of seven patients of African-American ancestry with type 1 Gaucher disease, and summarize the published...
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