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Article

Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

Chinese medical journal - 1 Jan 2013

Wei Ai-Hua, Yang Xiu-Min, Lian Shi, Li Wei

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder in all populations worldwide. The mutational spectra of OCA are population-specific. Some OCA patients carry mutations from different OCA genes. In this study, we investigated the frequency of digenic mutations in Chinese OCA patients. METHODS: Genomic DNAs were extracted from the blood samples of 184 clinically...

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Topics

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Share to Albinism, Oculocutaneous
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to TYRP1 gene

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Source

Identifiers

PMID: 23324268

Genes

OCA2
TYR
HPS1
TYRP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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