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Article

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

PloS one - 1 Jan 2015

Wang Yun, Wang Zhi, Chen Mengping, Fan Ning, Yang Jie, Liu Lu, Wang Ying, Liu Xuyang

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. OBJECTIVE: The purpose of this study was to evaluate the molecular...

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Source

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Identifiers

PMID: 25919014
DOI: 10.1371/journal.pone.0125651
PMCID: PMC4412409

Genes

TYR
OCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25919014-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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