Identification of Novel Missense Mutation G571E,Novel Silent Mutation H229H,Nonsense Mutation C74X,and Four Single Nucleotide Polymorphisms in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg |
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| Authors: | Zakharova F. M. Golubkov V. I. Mandelshtam M. Ju. Lipovetskii B. M. Gaitskhoki V. S. |
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| Affiliation: | (1) Institute for Experimental Medicine, Russian Academy of Medical Sciences, ul. Akademika Pavlova 12, St. Petersburg, 197376, Russia;(2) Institute of Human Brain, Russia Academy of Sciences, St. Petersburg, Russia |
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| Abstract: | Novel missense mutation G571E (c.1775 G > A), novel silent mutation H229H (c.750 C > T), and nonsense mutation C74X (c.285 C > A), earlier described in Japan but unknown in Russia, were identified in the low-density lipoprotein (LDL) receptor gene in St. Petersburg familial hypercholesterolemia patients. The analyzed group of patients was shown to be polymorphic in many positions of the LDL receptor gene, namely, c.1171 G/A, c.1773 T/C, c.2177 C/T, and c.2231 G/A. |
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| Keywords: | mutation single nucleotide polymorphisms low-density lipoprotein receptor familial hypercholesterolemia |
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