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[The Familial Hypercholesterolemia Caused by a Novel Human Low Density Lipoprotein Receptor Gene Mutation c.1327 T>C (p.W433R)].

Kardiologiia - 1 Feb 2017

Korneva V A, Kuznetsova T Yu, Murtazina R Z, Didio A V, Bogoslovskaya T Yu, Mandelshtam M Yu, Vasilyev V B

Abstract excerpt

During investigation of molecular nature of familial hypercholesterolemia (FH) in Petrozavodsk (Russia) cohort of patients a novel low density lipoprotein (LDL) receptor gene mutation was found. This mutation designated c.1327 T>C (W443R [W422R]) was predicted to cause substitution of arginine for tryptophan residue in the very conservative -propeller domain of the LDL receptor. Inheritance of the new mutation...

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PMID: 28290784

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