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Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.
Oguchi, Tomohiro; Ohtsuka, Akihiro; Hashimoto, Shigenari; Oshima, Aki; Abe, Satoko; Kobayashi, Yumiko; Nagai, Kyoko; Matsunaga, Tatsuo; Iwasaki, Satoshi; Nakagawa, Takashi; Usami, Shin-Ichi.
Afiliación
  • Oguchi T; Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
  • Ohtsuka A; Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
  • Hashimoto S; Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
  • Oshima A; Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
  • Abe S; Abe ENT Clinic, 2-2-5 Nishi-magome, Ota-ku, Tokyo, 143-0026, Japan.
  • Kobayashi Y; Department of Otorhinolaryngology, Iwate Medical University, 19-1 Uchimaru, Morioka, Iwate, 020-8505, Japan.
  • Nagai K; Department of Otorhinolaryngology, Gunma University School of Medicine, 4-2 Aramaki-machi, Maebashi, Gunma, 371-8510, Japan.
  • Matsunaga T; Department of Otolaryngology/Laboratory of Auditory Disorders, National Tokyo Medical Center, National Institute of Sensory Organs, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.
  • Iwasaki S; Department of Otorhinolaryngology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan.
  • Nakagawa T; Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
  • Usami SI; Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan. usami@hsp.md.shinshu-u.ac.jp.
J Hum Genet ; 50(2): 76-83, 2005.
Article en En | MEDLINE | ID: mdl-15700112
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Conexinas / Predisposición Genética a la Enfermedad / Pérdida Auditiva Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2005 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Conexinas / Predisposición Genética a la Enfermedad / Pérdida Auditiva Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2005 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido