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Article

GPR143 mutations in Chinese patients with ocular albinism type 1.

Molecular medicine reports - 1 May 2017

Jia Xiuhua, Yuan Jin, Jia Xiaoyun, Ling Shiqi, Li Shiqiang, Guo Xiangming

Abstract excerpt

The aim of the present study was to evaluate mutations of the G protein-coupled receptor 143 (GPR143) gene for ocular albinism type 1 (OA1) in Chinese patients. For the current study, 8 patients with OA1 were selected from the database of ocular genetic diseases. Genomic DNA of OA1 was prepared from venous leukocytes collected from the patients. Cycle sequencing was used to analyze the exons and adjacent introns...

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PMID: 28339057
DOI: 10.3892/mmr.2017.6366
PMCID: PMC5428903

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