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Article

A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.

Molecular vision - 1 Jan 2009

Peng Yuanyuan, Meng Yan, Wang Zheng, Qin Mei, Li Xiaoqiao, Dian Yan, Huang Shangzhi

Abstract excerpt

PURPOSE: To elucidate the molecular genetic defect of X-linked congenital nystagmus in a Chinese family. METHODS: Genomic DNA was prepared from peripheral blood. We used allele-sharing analysis to identify the possible locus harboring the disease-causing gene. We screened for mutations in the G p...

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Identifiers

PMID: 19390656
PMCID: PMC2671585

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19390656-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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