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Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia

✍ Scribed by Trond P. Leren; Hilde Sundvold; Olaug K. Rødningen; Serena Tonstad; Kari Solberg; Leiv Ose; Kåre Berg

Publisher
Springer
Year
1995
Tongue
English
Weight
637 KB
Volume
95
Category
Article
ISSN
0340-6717

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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,