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Article

[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2017

Zhao Qi, Guan Menglong, Wang Ling, Liao Yong, Li-Ling Jesse, Wan Huajing

Abstract excerpt

OBJECTIVE: To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism. METHODS: Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing. RESULTS: A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same...

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PMID: 28397224
DOI: 10.3760/cma.j.issn.1003-9406.2017.02.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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