Article
Clinical and genetic characteristics of Korean patients with Gaucher disease.
Blood cells, molecules & diseases - 15 Jan 2011
Jeong Seon-Yong, Park Sang-Jin, Kim Hyon J
Abstract excerpt
Gaucher disease (GD) is an autosomal recessive glycolipid lysosomal storage disease caused by a deficiency of the β-glucocerebrosidase enzyme (GBA). Allelic heterogeneity in GD has been well described. To date, more than 270 different GBA mutations have been reported. In order to determine the GBA mutation spectrum in Korean GD patients, we performed GBA mutation analysis of Korean patients and identified 72 GBA...
Topics
- Adolescent
- Adult
- Alleles
- Child
- Child, Preschool
- Ethnicity
- Female
- Gaucher Disease
- Gene Frequency
- Genetic Predisposition to Disease
- Glucosylceramidase
- Humans