[Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the low-density lipoprotein receptor in patients with familial hypercholesterolemia from St. Petersburg].

Abstract excerpt

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 in patients. The analyzed group of patients was shown to be polymorphic in many positions of the LDL receptor gene,...

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