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

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

American journal of human genetics - 1 Nov 1996

Weston M D, Kelley P M, Overbeck L D, Wagenaar M, Orten D J, Hasson T, Chen Z Y, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson S G, Gorin M B, Kimberling W J

Abstract excerpt

Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Chromosomes, Human, Pair 11
Share to Dyneins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Myosins

Share to Retinitis Pigmentosa

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 8900236
PMCID: PMC1914835

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8900236-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.PMID 8900236Read ↗

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.Semantic proximity Read ↗

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.Semantic proximity Read ↗

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.Semantic proximity Read ↗

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.Semantic proximity Read ↗

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.Semantic proximity Read ↗

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.Semantic proximity Read ↗

Novel mutations in MYO7A and USH2A in Usher syndrome.Semantic proximity Read ↗

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.Semantic proximity Read ↗

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.Semantic proximity Read ↗

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.Semantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.Semantic proximity Read ↗

Defective myosin VIIA gene responsible for Usher syndrome type 1B.Semantic proximity Read ↗

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