Occurrence of multiple aberrantly spliced mRNAs of LDL-receptor in some mutations of LDL-receptor gene causing familial hypercholesterolemia
β Scribed by N. Lelli; R. Garuti; S. Calandra; S. Bertolini
- Book ID
- 118325889
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 104 KB
- Volume
- 115
- 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,