Article
Genetic diagnosis of Gaucher's disease.
Lancet (London, England) - 11 Apr 1992
Mistry P K, Smith S J, Ali M, Hatton C S, McIntyre N, Cox T M
Abstract excerpt
The inherited disorder Gaucher's disease can be caused by various mutations in the glucocerebrosidase gene. Some mutations may be associated with greater severity, and there is a need for methods of gene analysis that would facilitate screening and diagnosis. We have studied the molecular basis of Gaucher's disease in twelve unrelated patients of diverse ethnic origin by means of the amplification refractory...
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