Article
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
Human mutation - 1 Jan 1994
Sidransky E, Bottler A, Stubblefield B, Ginns E I
Abstract excerpt
The wide spectrum of clinical manifestations resulting from glucocerebrosidase deficiency complicates genetic counseling for Gaucher disease. The identification of mutations in the glucocerebrosidase gene has enabled studies of genotype-phenotype correlation. However, a genotypic analysis of 60 type 1 and type 3 Gaucher patients reveals that the 5 most common Gaucher mutations, N370S, L444P, R463C, 84insG, and...
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