Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia

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-caus...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2005
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC551615/
https://ncbi.nlm.nih.gov/pubmed/15701167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-6
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