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Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.

Journal of atherosclerosis and thrombosis - 1 May 2022

Nagahara Keiko, Nishibukuro Tsuyoshi, Ogiwara Yasuko, Ikegawa Kento, Tada Hayato, Yamagishi Masakazu, Kawashiri Masa-Aki, Ochi Ayako, Toyoda Junya, Nakano Yuya, Adachi Masanori, Mizuno Katsumi, Hasegawa Yukihiro, Dobashi Kazushige

Abstract excerpt

AIM: This study aimed to elucidate the gene and lipid profiles of children clinically diagnosed with familial hypercholesterolemia (FH). METHODS: A total of 21 dyslipidemia-related Mendelian genes, including FH causative genes (LDLR, APOB, and PCSK9) and LDL-altering genes (APOE, LDLRAP1, and ABCG5/8), were sequenced in 33 Japanese children (mean age, 9.7±4.2 years) with FH from 29 families. RESULTS: Fifteen...

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Identifiers

PMID: 34011801
DOI: 10.5551/jat.62807
PMCID: PMC9135660

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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