Article
Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.
American journal of medical genetics - 3 Oct 1997
Rockah R, Narinsky R, Hatskelzon L, Frisch A
Abstract excerpt
A 26-year-old Bedouin with moderate thrombocytopenia and enlarged spleen and liver was diagnosed as having type I Gaucher disease based on the presence of Gaucher cells in the bone marrow biopsy and enzymatic determination of glucocerebrosidase activity. Molecular analysis excluded 10 common mutations in the glucocerebrosidase gene. Homozygosity for the C --> T mutation in nucleotide 259 of the cDNA (1763...
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