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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC551615/
https://www.ncbi.nlm.nih.gov/pubmed/15701167
http://dx.doi.org/10.1186/1471-2350-6-6

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