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

KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.

Molecular vision - 1 Apr 2005

Lin Long-Kuang, Chien Yin-Hsiu, Wu Jer-Yuarn, Wang Ai-Hou, Chiang Shu-Chuan, Hwu Wuh-Liang

Abstract excerpt

PURPOSE: To determine, in Taiwanese patients, the genetic basis of congenital fibrosis of the extraocular muscles (CFEOM) type 1 and 3, a group of diseases characterized by congenital restrictive ophthalmoplegia affecting muscles innervated by the oculomotor nerve. METHODS: Linkage analysis with microsatellite markers at chromosome 12q and direct sequence analysis of the KIF21A gene were performed on three...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 12
Share to Fibrosis
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kinesins

Share to Nerve Tissue Proteins

Share to Oculomotor Muscles

Share to Ophthalmoplegia, Chronic Progressive External

Share to Taiwan

Source

Identifiers

PMID: 15827546

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

KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.PMID 15827546Read ↗

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.Semantic proximity Read ↗

Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.Semantic proximity Read ↗

KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.Semantic proximity Read ↗

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).Semantic proximity Read ↗

Discovery of New Mutation Sites of KIF21A Gene in Chinese Patients with Congenital Fibrosis of the Extraocular MusclesSemantic proximity Read ↗

[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].Semantic proximity Read ↗

Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.Semantic proximity Read ↗

Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.Semantic proximity Read ↗

KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.Semantic proximity Read ↗

New Mutation Sites of KIF21A Gene in Chinese Patients with Congenital Fibrosis of the Extraocular MusclesSemantic proximity Read ↗

KIF21A variant R954W in familial or sporadic cases of CFEOM1.Semantic proximity Read ↗

[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].Semantic proximity Read ↗

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