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Article

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

Journal of medical genetics - 1 Nov 2006

Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán J M

Abstract excerpt

Mutations in USH2A gene have been shown to be responsible for Usher syndrome type II, an autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. USH2A was firstly described as consisting of 21 exons, but 52 novel exons at the 3' end of the gene were recently identified. In this report, a mutation analysis of the new 52 exons of USH2A gene was carried out in 32 unrelated patients in...

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Identifiers

PMID: 17085681
DOI: 10.1136/jmg.2006.041764
PMCID: PMC2563181

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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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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.PMID 17085681Read ↗

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