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[The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2008

Li Ning-dong, Cui Li-hong, Wang Li-ming, Ma Hui-zhi, Zhang Li-ling, Yue Yi-ying, Zhao Kan-xing

Abstract excerpt

OBJECTIVE: To study the mutation of FRMD7 gene in a Chinese family with congenital idiopathic nystagmus. METHODS: Forty-six individuals in the Chinese family with congenital idiopathic nystagmus, including 16 patients, 19 normal siblings and 11 spouses, were investigated under informed consent. Genomic DNA of all 46 members was isolated by standard protocol. The X-linked inherited pattern was ascertained by...

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Identifiers

PMID: 18247295

Genes

FRMD7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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