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Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Li, Mengnan; Nishio, Shin-Ya; Naruse, Chie; Riddell, Meghan; Sapski, Sabrina; Katsuno, Tatsuya; Hikita, Takao; Mizapourshafiyi, Fatemeh; Smith, Fiona M; Cooper, Leanne T; Lee, Min Goo; Asano, Masahide; Boettger, Thomas; Krueger, Marcus; Wietelmann, Astrid; Graumann, Johannes; Day, Bryan W; Boyd, Andrew W; Offermanns, Stefan; Kitajiri, Shin-Ichiro; Usami, Shin-Ichi; Nakayama, Masanori.
Afiliación
  • Li M; Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
  • Nishio SY; DFG Research Training Group, Membrane Plasticity in Tissue Development and Remodeling, GRK 2213, Philipps-Universität Marburg, Marburg, Germany.
  • Naruse C; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Riddell M; Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Sapski S; Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
  • Katsuno T; Department of Pharmacology, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
  • Hikita T; Department of Otolaryngology - Head and Neck Surgery Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Mizapourshafiyi F; Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
  • Smith FM; Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
  • Cooper LT; DFG Research Training Group, Membrane Plasticity in Tissue Development and Remodeling, GRK 2213, Philipps-Universität Marburg, Marburg, Germany.
  • Lee MG; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Asano M; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Boettger T; Department of Pharmacology, Yonsei University College of Medicine, Seoul, Korea.
  • Krueger M; Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Wietelmann A; Department of Cardiac Development and Remodelling, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
  • Graumann J; Institute for Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
  • Day BW; MRI and µCT Service Group, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
  • Boyd AW; Scientific Service Group Biomolecular Mass Spectrometry Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
  • Offermanns S; German Centre for Cardiovascular Research (DZHK), Partner Site - Rhine-Main, Berlin, Germany.
  • Kitajiri SI; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Usami SI; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Nakayama M; Department of Pharmacology, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
Nat Commun ; 11(1): 1343, 2020 03 12.
Article en En | MEDLINE | ID: mdl-32165640
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Efrina-A2 / Transportadores de Sulfato / Bocio Nodular / Pérdida Auditiva Sensorineural Límite: Animals / Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
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PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Efrina-A2 / Transportadores de Sulfato / Bocio Nodular / Pérdida Auditiva Sensorineural Límite: Animals / Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania