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Article

Identification of TYR mutations in patients with oculocutaneous albinism.

Molecular medicine reports - 1 Jun 2018

Sun Wan, Shen Yanjie, Shan Shan, Han Liyun, Li Yang, Zhou Zheng, Zhong Zilin, Chen Jianjun

Abstract excerpt

Oculocutaneous albinism (OCA) is a set of autosomal recessive disorders characterized by hypopigmented hair, skin and eyes. Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism. In the present study, 17 patients with non‑syndromic OCA were enrolled from eight provinces of China and were non‑consanguineous, with the...

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Source

Identifiers

PMID: 29658579
DOI: 10.3892/mmr.2018.8881

Genes

TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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