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Article

[A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].

Kardiologiia - 1 Jan 2013

Korneva V A, Kuznetsova T Iu, Komarova T Iu, Golovina A S, Mandel'shtam M Iu, Konstantinov V O, Vasil'ev V B

Abstract excerpt

Novel mutation p. FsS65:D129X in human low density lipoprotein receptor gene in a female patient with typical clinical symptoms of familial hypercholesterolemia is described in this paper. Segregation of this mutation with hypercholesterolemia in the family of the patient from Petrozavodsk is dem...

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PMID: 23952995

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23952995-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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