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Article

A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia.

Journal of clinical lipidology - 1 Jan 2000

Tada Hayato, Hori Mika, Nomura Akihiro, Hosomichi Kazuyoshi, Nohara Atsushi, Kawashiri Masa-Aki, Harada-Shiba Mariko

Abstract excerpt

BACKGROUND: Little data exist on the pathogenic mutations of LDL receptor in Japanese familial hypercholesterolemia (FH). OBJECTIVE: We aimed to catalog the pathogenic mutations of LDL receptor gene in the 2 major Japanese FH-care centers (Kanazawa University and National Cerebral and Cardiovascular Center Research Institute), where genetic testing of FH has been performed centrally on requests from institutes...

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Share to Cholesterol and Lipid Metabolism
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32331935
DOI: 10.1016/j.jacl.2020.03.002

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