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Article

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

European journal of human genetics : EJHG - 1 May 2004

Aller Elena, Nájera Carmen, Millán José María, Oltra Juan S, Pérez-Garrigues Herminio, Vilela Concepción, Navea Amparo, Beneyto Magdalena

Abstract excerpt

The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa (RP). Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. We have investigated the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Identifiers

PMID: 14970843
DOI: 10.1038/sj.ejhg.5201138

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