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Article

Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations.

Legal medicine (Tokyo, Japan) - 1 Jul 2011

Yuasa Isao, Harihara Shinji, Jin Feng, Nishimukai Hiroaki, Fujihara Junko, Fukumori Yasuo, Takeshita Haruo, Umetsu Kazuo, Saitou Naruya

Abstract excerpt

Two mutants, OCA2∗481Thr (c.1441G>A, p.Ala481Thr) and OCA2∗615Arg (c.1844A>G, p.His615Arg), in the OCA2 (oculocutaneous albinism type II) gene are associated with hypopigmentation in East Asians. Here, these two alleles were studied to assess the frequencies in five different populations. In addi...

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Source

Identifiers

PMID: 21565543
DOI: 10.1016/j.legalmed.2011.04.003

Genes

OCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21565543-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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