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Article

The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln).

Journal of clinical lipidology - 1 Jan 2000

Hori Mika, Takahashi Atsushi, Son Cheol, Ogura Masatsune, Harada-Shiba Mariko

Abstract excerpt

BACKGROUND: We previously showed that patients without pathogenic variants in the LDLR and PCSK9 genes comprised approximately 40% of familial hypercholesterolemia (FH) cases. OBJECTIVE: Our aim was to identify novel causative variants in Japanese patients with FH. METHODS: Whole-exome sequencing was performed in 216 family members from 123 families without pathogenic variants in the LDLR and PCSK9 genes....

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Source

Identifiers

PMID: 32591292
DOI: 10.1016/j.jacl.2020.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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