Article
Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia.
Lancet (London, England) - 27 Jun 1998
Pocovi M, Cenarro A, Civeira F, Torralba M A, Perez-Calvo J I, Mozas P, Giraldo P, Giralt M, Myers R H, Cupples L A, Ordovas J M
Abstract excerpt
BACKGROUND: Gaucher's disease is the most common lysosomal storage disorder, caused by deficiency of glucocerebrosidase resulting from homozygosity for any of several mutations of the glucocerebrosidase gene locus. Affected people have decreased concentrations of LDL cholesterol (LDL-C) and HDL c...
Topics
- Adult
- Case-Control Studies
- Cholesterol, HDL
- Cholesterol, LDL
- Female
- Gaucher Disease
- Genetic Carrier Screening
- Glucosylceramidase
- Heterozygote
- Humans
- Male
- Mutation
- Point Mutation
- Spain
- Tangier Disease