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...

Descripción completa

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

Internet

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

Ejemplares similares