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  • Title: Type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
    Author: Bolaman Z, Kadikoylu G, Levi E, Barutca S, Temucin K.
    Journal: Haematologia (Budap); 2002; 32(4):487-93. PubMed ID: 12803123.
    Abstract:
    Gaucher's disease is an inherited glycolipid storage disorder, caused by a deficiency of the catabolic enzyme glucocerebrosidase. Frequently, N370S and L444P of mutations are observed. R463C (i.e., 1504C-->T) mutation may predict neurological involvement in Gaucher's disease. We report a 36-year-old Turkish man with type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
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