Search Results - "Zakharova, F.M."
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Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia
Published in Vavilovskiĭ zhurnal genetiki i selekt͡s︡ii (01-05-2022)“…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…”
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“Finnish” Mutations in LDL Receptor Gene: A Rare Cause of Familial Hypercholesterolemia in St. Petersburg and Petrozavodsk
Published in Bulletin of experimental biology and medicine (01-07-2013)“…The search for two mutations, FH-Helsinki and FH-North Karelia, in LDL receptor gene was carried out in patients with familial hypercholesterolemia from St…”
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Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCC) in St. Petersburg Familial Hypercholesterolemia
Published in Molecular genetics and metabolism (01-12-1998)“…Familial hypercholesterolemia (FH), a monogenic disease known to be caused by low-density lipoprotein receptor (LDLR) gene mutations, results in the…”
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