Article
Clinical and molecular aspects of Gaucher disease in New Zealand.
The New Zealand medical journal - 22 Aug 1997
Woodfield M J, Woodfield D G, Winship I M
Abstract excerpt
AIM: To report on the clinical and molecular aspects of Gaucher disease in New Zealand. METHODS: Patients known to have Gaucher disease were contacted and clinical information was recorded by questionnaire. Blood samples from affected individuals and their families provided DNA material for mutation analysis of disease causing alleles. Patients were assayed for beta-glucocerebrosidase, the enzyme deficiency which...
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