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Article

Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2009

Togo Masako, Hashimoto Yoshiaki, Iso-O Naoyuki, Kurano Makoto, Hara Masumi, Kadowaki Takashi, Koike Kazuhiko, Tsukamoto Kazuhisa

Abstract excerpt

BACKGROUND: Phytosterolemia is one of the genetic disorders causing hypercholesterolemia and atherosclerosis together with the accumulation of plant sterol in plasma and tissues. The mutations in ABCG5 and ABCG8 genes, encoding sterolin-1 and -2, respectively, are responsible for phytosterolemia. METHODS: We performed genetic analyses on 2 Japanese phytosterolemia patients. RESULTS: We identified 2 mutations in...

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Source

Identifiers

PMID: 19111681
DOI: 10.1016/j.cca.2008.10.026

Genes

ABCG5
ABCG8

Provenance

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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