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USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.
Moteki, Hideaki; Yoshimura, Hidekane; Azaiez, Hela; Booth, Kevin T; Shearer, A Eliot; Sloan, Christina M; Kolbe, Diana L; Murata, Toshinori; 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, IA, USA Department of Hearing Implant Sciences, Shin
  • Yoshimura H; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Azaiez H; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Booth KT; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Shearer AE; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Sloan CM; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Kolbe DL; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Murata T; Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Smith RJ; Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, 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: 123S-8S, 2015 May.
Article em En | MEDLINE | ID: mdl-25743181

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores Acoplados a Proteínas G / Síndromes de Usher / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores Acoplados a Proteínas G / Síndromes de Usher / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article