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CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz, Christina; Nassisi, Marco; Laurent-Coriat, Caroline; Andrieu, Camille; Boyard, Fiona; Condroyer, Christel; Démontant, Vanessa; Antonio, Aline; Lancelot, Marie-Elise; Frederiksen, Helen; Kloeckener-Gruissem, Barbara; El-Shamieh, Said; Zanlonghi, Xavier; Meunier, Isabelle; Roux, Anne-Françoise; Mohand-Saïd, Saddek; Sahel, José-Alain; Audo, Isabelle.
Afiliación
  • Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Nassisi M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Laurent-Coriat C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.
  • Andrieu C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.
  • Boyard F; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Démontant V; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Lancelot ME; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Frederiksen H; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Kloeckener-Gruissem B; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
  • El-Shamieh S; Department of Biology, ETH Zurich, Zurich, Switzerland.
  • Zanlonghi X; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Meunier I; Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.
  • Roux AF; Clinique Pluridisciplinaire Jules Verne, Institut Ophtalmologique de l'Ouest, Nantes, France.
  • Mohand-Saïd S; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.
  • Sahel JA; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France.
  • Audo I; Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, France.
Hum Mutat ; 42(4): 323-341, 2021 04.
Article en En | MEDLINE | ID: mdl-33538369
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Coroideremia / Proteínas Adaptadoras Transductoras de Señales Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Coroideremia / Proteínas Adaptadoras Transductoras de Señales Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Francia