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Article

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.

Journal of Zhejiang University. Science. B - 1 Jun 2013

Song Feng-wei, Chen Bin-bin, Sun Zhao-hui, Wu Li-ping, Zhao Su-juan, Miao Qi, Tang Xia-jing

Abstract excerpt

OBJECTIVE: To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN). METHODS: Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls....

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Source

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Identifiers

PMID: 23733424
DOI: 10.1631/jzus.B1200259
PMCID: PMC3682163

Genes

FRMD7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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