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A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.
Martín-Sierra, Carmen; Requena, Teresa; Frejo, Lidia; Price, Steven D; Gallego-Martinez, Alvaro; Batuecas-Caletrio, Angel; Santos-Pérez, Sofía; Soto-Varela, Andrés; Lysakowski, Anna; Lopez-Escamez, Jose A.
Afiliación
  • Martín-Sierra C; Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain.
  • Requena T; Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain.
  • Frejo L; Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain.
  • Price SD; Dept. of Anatomy and Cell Biology, Univ. of Illinois at Chicago, Chicago, IL 60612, USA.
  • Gallego-Martinez A; Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain.
  • Batuecas-Caletrio A; Department of Otolaryngology, Hospital Universitario Salamanca 37007, Spain.
  • Santos-Pérez S; Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela 15706, Spain.
  • Soto-Varela A; Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela 15706, Spain.
  • Lysakowski A; Dept. of Anatomy and Cell Biology, Univ. of Illinois at Chicago, Chicago, IL 60612, USA.
  • Lopez-Escamez JA; Dept. of Otolaryngology-Head and Neck Surgery, Univ. of Illinois at Chicago, Chicago IL 60612, USA.
Hum Mol Genet ; 25(16): 3407-3415, 2016 08 15.
Article en En | MEDLINE | ID: mdl-27329761
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Proteína Quinasa C beta / Pérdida Auditiva Sensorineural / Enfermedad de Meniere Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Proteína Quinasa C beta / Pérdida Auditiva Sensorineural / Enfermedad de Meniere Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido