Article
Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.
Molecular genetics and metabolism - 1 Mar 2001
Mao R, O'Brien J F, Rao S, Schmitt E, Roa B, Feldman G L, Spence W C, Snow K
Abstract excerpt
A 55-bp deletion in exon 9 of the glucocerebrosidase gene was identified in a 28-year-old male affected with Gaucher disease. The diagnosis was established during an evaluation for mild pancytopenia and was confirmed by bone marrow histology and biochemical studies. The patient is of German ancestry. Initial DNA testing indicated homozygosity for the N370S mutation. However, subsequent testing of the patient's...
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