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Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
Iwasa, Yoh-Ichiro; Moteki, Hideaki; Hattori, Mitsuru; Sato, Ririko; Nishio, Shin-Ya; Takumi, Yutaka; Usami, Shin-Ichi.
Afiliação
  • Iwasa Y; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Moteki H; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
  • Hattori M; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Sato R; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Nishio SY; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
  • Takumi Y; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
  • Usami S; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
Ann Otol Rhinol Laryngol ; 124 Suppl 1: 111S-7S, 2015 May.
Article em En | MEDLINE | ID: mdl-25780254
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Colágeno Tipo XI / Sequenciamento de Nucleotídeos em Larga Escala / Perda Auditiva Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Colágeno Tipo XI / Sequenciamento de Nucleotídeos em Larga Escala / Perda Auditiva Idioma: En Ano de publicação: 2015 Tipo de documento: Article