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Article

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Molecular vision - 1 Jan 2008

Fang Shaohua, Guo Xiangming, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Zhang Qingjiong

Abstract excerpt

PURPOSE: There are few genetic studies and clinical descriptions of Asian patients with X-linked ocular albinism (OA1). In the present study, the mutation analysis of G protein-coupled receptor 143 gene (GPR143) and clinical characteristics were assessed in Chinese patients with OA1. METHODS: Six...

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Identifiers

PMID: 18978956
PMCID: PMC2576482

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18978956-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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