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 previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family.

Indian journal of ophthalmology - 1 Nov 2016

Liu Jing, Jia Yanlei, Wang Lejin, Bu Juan

Abstract excerpt

BACKGROUND: Congenital nystagmus (CN) is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. METHODS: It has been reported that mutations in four-point-one, ezrin, radixin,...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to DNA
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genetic Diseases, X-Linked

Share to Incidence

Share to Membrane Glycoproteins

Share to Nystagmus, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 27958203
DOI: 10.4103/0301-4738.195593
PMCID: PMC5200982

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family.PMID 27958203Read ↗

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

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

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.Semantic proximity Read ↗

GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.Semantic proximity Read ↗

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

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.Semantic proximity Read ↗

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital NystagmusSemantic proximity Read ↗

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.Semantic proximity Read ↗

Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene.Semantic proximity Read ↗

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.Semantic proximity Read ↗

Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus.Semantic proximity Read ↗

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

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