A multiexon deletion in the human low density lipoprotein receptor gene causes familial hypercholesterolemia
Journal Article
·
· Russian Journal of Genetics
OSTI ID:70416
- Institute of Experimental Medicine, St. Petersburg (Russian Federation)
Familial hypercholesterolemia (FH) is a widespread human disease. FH is caused by a disturbance in the catabolism of low density lipoproteins (LDL), which results from mutations in the LDL receptor gene (LDLR). The majority of mutations in the LDLR locus is represented by large-scale reorganizations in the above gene. In this study, we describe a novel 5 kb deletion, which eliminates exons 4 to 6 in the LDLR gene. 16 refs., 2 figs., 1 tab.
- OSTI ID:
- 70416
- Journal Information:
- Russian Journal of Genetics, Journal Name: Russian Journal of Genetics Journal Issue: 2 Vol. 31; ISSN 1022-7954; ISSN RJGEEQ
- Country of Publication:
- United States
- Language:
- English
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