Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote
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Cited by (15)
Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population
2016, Clinical BiochemistryCitation Excerpt :There are more than 1100 variants found in the LDLR gene worldwide [7]. There are about 12 mutations in the LDLR gene reported in the Indian population [4,8–10]. Apolipoprotein B aids in binding of LDL cholesterol to LDLR and the mutation in APOB gene causes defective receptor binding and leads to elevated plasma LDL cholesterol.
Update of the Portuguese Familial Hypercholesterolaemia Study
2010, AtherosclerosisThe molecular basis of familial hypercholesterolaemia in Turkish patients
2005, AtherosclerosisValidation of LDLr activity as a tool to improve genetic diagnosis of familial hypercholesterolemia: A retrospective on functional characterization of LDLr variants
2018, International Journal of Molecular SciencesPopulation specific genetic heterogeneity of familial hypercholesterolemia in South Africa
2018, Current Opinion in Lipidology
- 1
Present address: Department of Genetics, University of Stellenbosch, Stellenbosch, South Africa.
- 2
Present address: East Anglian Regional Genetics Service, Molecular Genetics Laboratory, Box 158, Addenbrooke's NHS Trust, Hills Road, Cambridge, CB2 QQ, United Kingdom.
- 3
Present address: Department of Internal Medicine, Division of Molecular Medicine, University of Kentucky, Kentucky Clinic, Lexington, KY, USA.
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