Partial USH2A deletions contribute to Usher syndrome in Denmark

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. Usher syndrome is divided into three subtypes, USH1, USH2 and USH3. Twelve loci and eleven genes have so f...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Dad, Shzeena, Rendtorff, Nanna D, Kann, Erik, Albrechtsen, Anders, Mehrjouy, Mana M, Bak, Mads, Tommerup, Niels, Tranebjærg, Lisbeth, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth B
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795208/
https://ncbi.nlm.nih.gov/pubmed/25804404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.54
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