Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

Molecular vision - 11 Jan 2008

He Xiang, Gu Feng, Wang Yujing, Yan Jinting, Zhang Meng, Huang Shangzhi, Ma Xu

Abstract excerpt

PURPOSE: To identify the gene responsible for causing an X-linked idiopathic congenital nystagmus (XLICN) in a six-generation Chinese family. METHODS: Forty-nine members of an XLICN family were recruited and examined after obtaining informed consent. Affected male individuals were genotyped with microsatellite markers around the FRMD7 locus. Mutations were comprehensively screened by direct sequencing using gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, X
Share to Cysteine
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Guanine

Share to Nystagmus, Congenital

Share to Phenylalanine

Share to Thymine

Source

Open in PubMed Open full text

Identifiers

PMID: 18246032
PMCID: PMC2267738

Genes

FRMD7

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.PMID 18246032Read ↗

A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family.Semantic proximity Read ↗

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.Semantic proximity Read ↗

A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family.Semantic proximity Read ↗

Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.Semantic proximity Read ↗

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.Semantic proximity Read ↗

Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.Semantic proximity Read ↗

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.Semantic proximity Read ↗

A Novel Frameshift Mutation in <i>FRMD7</i> Causing X-Linked Idiopathic Congenital NystagmusSemantic proximity Read ↗

A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus.Semantic proximity Read ↗

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.Semantic proximity Read ↗

Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus.Semantic proximity Read ↗

Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.