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

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

Human mutation - 1 Apr 2000

Adato A, Weston M D, Berry A, Kimberling W J, Bonne-Tamir A

Abstract excerpt

The Usher syndromes are autosomal recessive hereditary disorders characterized by hearing impairment and progressive visual loss due to Retinitis Pigmentosa (RP). Moderate to severe sensorineural hearing loss and progressive RP characterizes Usher syndrome type IIa (USH2A), which maps to the long arm of chromosome 1q41. Recently, three deletions carried by USH2 patients, which were found in a novel gene isolated...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Consanguinity
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Israel

Share to Loss of Heterozygosity

Share to Retinitis Pigmentosa

Share to Syndrome

Source

Identifiers

PMID: 10738000
DOI: 10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N

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

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.PMID 10738000Read ↗

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.Semantic proximity Read ↗

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIaSemantic proximity Read ↗

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.Semantic proximity Read ↗

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.Semantic proximity Read ↗

Identification of novel USH2A mutations: implications for the structure of USH2A protein.Semantic proximity Read ↗

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.Semantic proximity Read ↗

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.Semantic proximity Read ↗

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.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 screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.Semantic proximity Read ↗

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.Semantic proximity Read ↗

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.Semantic proximity Read ↗

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