Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a very common human hereditary disease in Russia and in the whole world with most of mutations localized in the gene coding for the low density lipoprotein receptor (LDLR). The object of this review is to systematize the knowledge about LDLR mutations in Russia....

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Detalles Bibliográficos
Autores principales: Vasilyev, V.B., Zakharova, F.M., Bogoslovskaya, T.Yu., Mandelshtam, M.Yu.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167825/
https://www.ncbi.nlm.nih.gov/pubmed/35774363
http://dx.doi.org/10.18699/VJGB-22-38

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