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...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Public Library of Science 2014
Θέματα:
Research Article
Διαθέσιμο Online: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
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