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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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2005
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Accesso online: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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