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Article

A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.

Journal of atherosclerosis and thrombosis - 26 Feb 2010

Harada Koji, Miyamoto Yoshihiro, Morisaki Hiroko, Ohta Naotaka, Yamanaka Itaru, Kokubo Yoshihiro, Makino Hisashi, Harada-Shiba Mariko, Okayama Akira, Tomoike Hitonobu, Okamura Tomonori, Tomonori Okamura, Saito Yoshihiko, Yoshimasa Yasunao, Morisaki Takayuki

Abstract excerpt

AIM: The autosomal recessive hypercholesterolemia (ARH) gene is located on chromosome 1p35 and encodes a 308-amino acid protein containing a phosphotyrosine-binding domain. Several researchers have identified mutations of ARH that cause autosomal recessive hypercholesterolemia; however, it remain...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20124734
DOI: 10.5551/jat.2873

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20124734-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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