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Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.
Moteki, Hideaki; Azaiez, Hela; Booth, Kevin T; Hattori, Mitsuru; Sato, Ai; Sato, Yoshihiko; Motobayashi, Mitsuo; Sloan, Christina M; Kolbe, Diana L; Shearer, A Eliot; Smith, Richard J H; Usami, Shin-Ichi.
Afiliação
  • Moteki H; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Department of Hearing Implant Sciences, Sh
  • Azaiez H; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Booth KT; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Hattori M; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Sato A; Division of Diabetes, Endocrinology and Metabolism: Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
  • Sato Y; Division of Diabetes, Endocrinology and Metabolism: Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
  • Motobayashi M; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Sloan CM; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Kolbe DL; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Shearer AE; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Smith RJ; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • 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: 177S-83S, 2015 May.
Article em En | MEDLINE | ID: mdl-25788561
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome MELAS / Receptores Purinérgicos P2X2 / Perda Auditiva Neurossensorial / Mitocôndrias Tipo de estudo: Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Ann Otol Rhinol Laryngol Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome MELAS / Receptores Purinérgicos P2X2 / Perda Auditiva Neurossensorial / Mitocôndrias Tipo de estudo: Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Ann Otol Rhinol Laryngol Ano de publicação: 2015 Tipo de documento: Article