[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].
D018389:Codon, Nonsense; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics*; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D011973:Receptors, LDL / Q000235:genetics*; D012426:Russia / Q000453:epidemiology
Identifikatsiia novoĭ missens-mutatsii G571E, novoĭ molchashcheĭ mutatsii H229H, nonsens-mutatsii C74X i chetyrekh odnonukleotidnykh polimorfizmov v gene retsptora lipoproteinov nizkoĭ plotnosti u patsientov s semeĭnoĭ giperkholesterinemieĭ Sankt-Peterburga.