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Article

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

12 Jun 1998

Abstract excerpt

Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A...

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Identifiers

PMID: 9624053
DOI: 10.1126/science.280.5370.1753

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIaPMID 9624053Read ↗

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

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

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

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.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 ↗

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

Spectrum of USH2A mutations in Scandinavian 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 ↗

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.Semantic proximity Read ↗

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.Semantic proximity Read ↗

Pathogenesis and Treatment of Usher Syndrome Type IIA.Semantic proximity Read ↗

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