Your browser doesn't support javascript.
loading
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Mayer, Anja K; Mahajnah, Muhammad; Thomas, Mervyn G; Cohen, Yuval; Habib, Adib; Schulze, Martin; Maconachie, Gail D E; AlMoallem, Basamat; De Baere, Elfride; Lorenz, Birgit; Traboulsi, Elias I; Kohl, Susanne; Azem, Abdussalam; Bauer, Peter; Gottlob, Irene; Sharkia, Rajech; Wissinger, Bernd.
Afiliación
  • Mayer AK; Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
  • Mahajnah M; Child Neurology and Development Center, Hillel-Yaffe Medical Center, Hadera, Israel.
  • Thomas MG; The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel.
  • Cohen Y; Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.
  • Habib A; The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel.
  • Schulze M; Ophthalmology Department, Hillel Yaffe Medical Center, Hadera, Israel.
  • Maconachie GDE; Pediatric Department, St. Vincent French Hospital, Nazareth, Israel.
  • AlMoallem B; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • De Baere E; Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.
  • Lorenz B; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Traboulsi EI; Department of Ophthalmology, King Abdul-Aziz University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Kohl S; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Azem A; Department of Ophthalmology, Justus Liebig University Giessen, Giessen, Germany.
  • Bauer P; Cole Eye Institute, Cleveland, Ohio, USA.
  • Gottlob I; Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
  • Sharkia R; Department of Biochemistry and Molecular Biology, Tel Aviv University, Tel Aviv, Israel.
  • Wissinger B; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Brain ; 142(6): 1528-1534, 2019 06 01.
Article en En | MEDLINE | ID: mdl-31009037
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Receptores de Hidrocarburo de Aril / Nistagmo Congénito / Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico / Hipoplasia del Nervio Óptico / Homocigoto Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Receptores de Hidrocarburo de Aril / Nistagmo Congénito / Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico / Hipoplasia del Nervio Óptico / Homocigoto Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Alemania