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Article

Clinical features and genetic analysis of autosomal recessive hypercholesterolemia.

The Journal of clinical endocrinology and metabolism - 1 Jun 2003

Harada-Shiba Mariko, Takagi Atsuko, Miyamoto Yoshihiro, Tsushima Motoo, Ikeda Yasuyuki, Yokoyama Shinji, Yamamoto Akira

Abstract excerpt

Previously we have reported on siblings with severe hypercholesterolemia, xanthomas, and premature atherosclerosis without any impairment of low-density lipoprotein receptor in their fibroblasts as a first characterization of autosomal recessive hypercholesterolemia (ARH). Recently, mutations were identified for this disease in a gene encoding a putative adaptor protein. The purpose of this study was to examine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12788851
DOI: 10.1210/jc.2002-021487

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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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