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Article

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

Molecular vision - 12 Mar 2011

Hu Junjie, Liang Desheng, Xue Jinjie, Liu Jing, Wu Lingqian

Abstract excerpt

PURPOSE: The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. METHODS: A common clinical examination and an ophthalmic evaluation were performed on the proband, one carrier, and one unaffected member. Mutation analysis of the G protein-coupled receptor 143 (GPR143)...

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Source

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Identifiers

PMID: 21423867
PMCID: PMC3060156

Genes

FRMD7

Provenance

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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