Article
Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
BMC medical genetics - 8 Feb 2005
Zakharova Faina M, Damgaard Dorte, Mandelshtam Michail Y, Golubkov Valery I, Nissen Peter H, Nilsen Gitte G, Stenderup Anette, Lipovetsky Boris M, Konstantinov Vladimir O, Denisenko Alexander D, Vasilyev Vadim B, Faergeman Ole
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia is a human monogenic disease caused by population-specific mutations in the low density lipoprotein (LDL) receptor gene. Despite thirteen different mutations of the LDL receptor gene were reported from Russia prior to 2003, the whole spectrum of disease-c...
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