Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa t...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Yoshimura, Hidekane, Iwasaki, Satoshi, Nishio, Shin-ya, Kumakawa, Kozo, Tono, Tetsuya, Kobayashi, Yumiko, Sato, Hiroaki, Nagai, Kyoko, Ishikawa, Kotaro, Ikezono, Tetsuo, Naito, Yasushi, Fukushima, Kunihiro, Oshikawa, Chie, Kimitsuki, Takashi, Nakanishi, Hiroshi, Usami, Shin-ichi
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2014
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3949687/
https://ncbi.nlm.nih.gov/pubmed/24618850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0090688
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki