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Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote

✍ Scribed by Elzet Langenhoven; Louise Warnich; Rochelle Thiart; David C. Rubinsztein; Deneys R. van der Westhuyzen; A.David Marais; Maritha J. Kotze


Book ID
118059993
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
785 KB
Volume
125
Category
Article
ISSN
0021-9150

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Familial hypercholesterolemia (FH) is a genetic disorder caused by numerous mutations in the low-density lipoprotein receptor (LDLR) gene. Mutational analyses of Indians in South Africa suggest the possibility of a high frequency of FH in India. This study aimed at identifying mutations in exons 3,