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Article

Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

Journal of genetics and genomics = Yi chuan xue bao - 20 Jun 2015

Wei Ai-Hua, Zang Dong-Jie, Zhang Zhao, Yang Xiu-Min, Li Wei

Abstract excerpt

Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation in eyes, hair and skin, accompanied with vision loss. Currently, six genes have been identified as causative genes for non-syndromic OCA (OCA-1∼4, 6, 7), and ten genes for syndromic OCA (HPS-1-9, CHS-1). Genetic counseling of 51 Chinese OCA families (39 OCA-1 with mutations in the TYR gene, 6 OCA-2 with mutations in...

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Source

Identifiers

PMID: 26165494
DOI: 10.1016/j.jgg.2015.05.001

Genes

TYR
OCA2
HPS1

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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