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W14.351 Homogenous distribution of LDL-R mutations causing familial hypercholesterolemia in Greece

✍ Scribed by Choumcrianou, D.M.; Dedoussis, G.V.Z.; Skoumas, J.; Pitsavos, C.; Genscel, J.; Schmidt, H.; Stefandis, C.


Book ID
118632745
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
160 KB
Volume
5
Category
Article
ISSN
1567-5688

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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,