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Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
Yoshimura, Hidekane; Hashimoto, Takao; Murata, Toshinori; Fukushima, Kunihiro; Sugaya, Akiko; Nishio, Shin-Ya; Usami, Shin-Ichi.
Afiliação
  • Yoshimura H; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Hashimoto T; Department of Neurology, Aizawa Hospital, Matsumoto, Japan.
  • Murata T; Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Fukushima K; Department of Otorhinolaryngology, Fukuoka University School of Medicine, Fukuoka, Japan.
  • Sugaya A; Department of Otorhinolaryngology-Head and Neck Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama, Japan.
  • Nishio SY; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Science, Shinshu University School of Medicine, Matsumoto, Japan.
  • Usami S; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Science, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
Ann Otol Rhinol Laryngol ; 124 Suppl 1: 77S-83S, 2015 May.
Article em En | MEDLINE | ID: mdl-25743180
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Polineuropatias / Ataxia / Catarata / Retinose Pigmentar / Surdocegueira / Monoacilglicerol Lipases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male / Middle aged 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: Polineuropatias / Ataxia / Catarata / Retinose Pigmentar / Surdocegueira / Monoacilglicerol Lipases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article