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Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing

Usher syndrome type 1 (USH1) is the most severe of the three USH subtypes due to its profound hearing loss, absent vestibular response and retinitis pigmentosa appearing at a prepubescent age. Six causative genes have been identified for USH1, making early diagnosis and therapy possible through DNA...

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Detalles Bibliográficos
Autores principales:	Yoshimura, Hidekane, Miyagawa, Maiko, Kumakawa, Kozo, Nishio, Shin-ya, Usami, Shin-ichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893503/ https://www.ncbi.nlm.nih.gov/pubmed/26791358 http://dx.doi.org/10.1038/jhg.2015.168

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