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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949687/ https://www.ncbi.nlm.nih.gov/pubmed/24618850 http://dx.doi.org/10.1371/journal.pone.0090688 |
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