A novel mutation in exon 5 of the low density lipoprotein receptor gene in a Malay family with familial hypercholesterolaemia (FH)
F�amilial hypercholesterolaemia (FH) is an autosomal dominant inherited disease of lipid metabolism caused by mutations in the low density lipoprotein receptor (LDLR) gene. FH is clinically characterised by an elevated concentration of total cholesterol (TC) and low density lipoprotein cholesterol (...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Pusat Perubatan Universiti Kebangsaan Malaysia
2013
|
| Online Access: | http://journalarticle.ukm.my/13235/ http://journalarticle.ukm.my/13235/ http://journalarticle.ukm.my/13235/1/8-14-1-SM.pdf |