Title : A common and two novel GBA mutations in Thai patients with Gaucher disease.

Pub. Date : 2013 Sep

PMID : 23719189






2 Functional Relationships(s)
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1 Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the glucocerebrosidase (GBA) gene, leading to a deficiency of lysosomal beta-glucosidase and accumulation of glycosphingolipids in macrophages. Glycosphingolipids glucosylceramidase beta Homo sapiens
2 Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the glucocerebrosidase (GBA) gene, leading to a deficiency of lysosomal beta-glucosidase and accumulation of glycosphingolipids in macrophages. Glycosphingolipids glucosylceramidase beta Homo sapiens