Article
Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
Blood cells, molecules & diseases - 1 Jan 2000
Torralba M A, Pérez-Calvo J I, Pastores G M, Cenarro A, Giraldo P, Pocoví M
Abstract excerpt
BACKGROUND: Gaucher disease is an autosomal recessive disorder resulting from mutations in the glucocerebrosidase gene (GBA). The lack of full genotype/phenotype correlation complicates counseling regarding clinical outcome and treatment recommendations. SUBJECTS AND METHODS: Several mutations in the human beta-glucosidase gene associated with Gaucher disease in 16 Spanish families were identified utilizing a...
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