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Article

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

European journal of human genetics : EJHG - 1 Jul 2000

Dreyer B, Tranebjaerg L, Rosenberg T, Weston M D, Kimberling W J, Nilssen O

Abstract excerpt

Usher syndrome type II is an autosomal recessive disorder, characterised by stable hearing impairment from childhood and progressive retinitis pigmentosa from the late teens. Mutations in the USH2A gene, located on 1q41, were recently shown to be responsible for Usher syndrome type IIa. We have i...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10909849
DOI: 10.1038/sj.ejhg.5200491

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10909849-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Identification of novel USH2A mutations: implications for the structure of USH2A protein.PMID 10909849Read ↗

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