Article
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
American journal of human genetics - 1 Jun 2000
Koprivica V, Stone D L, Park J K, Callahan M, Frisch A, Cohen I J, Tayebi N, Sidransky E
Abstract excerpt
Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45). Although >100 mutations in the gene for human glucocerebrosidase have been described, most genotype-phenotype studies have focused upon screening for a few common mutations. In this study, we used several approaches-including direct sequencing, Southern blotting, long-template PCR, restriction digestions, and the...
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