Article
Gaucher disease: gene frequencies and genotype/phenotype correlations.
Genetic testing - 1 Jan 1997
Grabowski G A
Abstract excerpt
Gaucher disease is the most prevalent lysosomal storage disease and has its highest incidence in the Ashkenazi Jewish population. Over 100 mutant alleles have been identified in affected patients, but four alleles, termed N370S, L444P, 84GG, and IVS2, have significant frequencies in this population. In affected patients, genotype data show that the presence of a single N370S allele is diagnostic of the type 1 or...
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