A mutation (−49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Endocrinology,Biochemistry
Reference24 articles.
1. Familial hypercholesterolemia;Goldstein,1995
2. Software and database for the analysis of mutations in the human LDL receptor gene;Varret;Nucleic Acids Res.,1997
3. Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis;Heath;Atherosclerosis,2001
4. A G-1-to-A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia;Jensen;Clin. Genet.,1996
5. A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia;Koivisto;Proc. Natl. Acad. Sci. USA.,1994
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