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Article

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

American journal of human genetics - 1 Apr 2000

Weston M D, Eudy J D, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith R J, Sumegi J, Kimberling W J, Greenburg J

Abstract excerpt

Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. This disorder maps to human chromosome 1q41. Recently, mutations in USHIIa patients were identified in a novel gene isolated from this chromosomal region. The USH2A gene encodes a protein with a predicted molecular weight of 171.5 kD and possesses...

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Identifiers

PMID: 10729113
DOI: 10.1086/302855
PMCID: PMC1288187

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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.

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Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.PMID 10729113Read ↗

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