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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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Detaylı Bibliyografya
Yayımlandı:J Hum Genet
Asıl Yazarlar: Yoshimura, Hidekane, Miyagawa, Maiko, Kumakawa, Kozo, Nishio, Shin-ya, Usami, Shin-ichi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4893503/
https://ncbi.nlm.nih.gov/pubmed/26791358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2015.168
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