Article
A common and two novel GBA mutations in Thai patients with Gaucher disease.
Journal of human genetics - 1 Sept 2013
Tammachote Rachaneekorn, Tongkobpetch Siraprapa, Srichomthong Chalurmpon, Phipatthanananti Kampon, Pungkanon Suthipong, Wattanasirichaigoon Duangrurdee, Suphapeetiporn Kanya, Shotelersuk Vorasuk
Abstract excerpt
Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the glucocerebrosidase (GBA) gene, leading to a deficiency of lysosomal β-glucosidase and accumulation of glycosphingolipids in macrophages. We studied five Thai families with GD (four with GD type 1 and one with GD type 2). Using long-template PCR, PCR using specific primers for the functional gene, direct sequencing of all coding...
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