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Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott, A; Volk, A E; Herkenrath, P; Thiele, H; Fricke, J; Altmüller, J; Nürnberg, P; Kubisch, C; Neugebauer, A.
Afiliación
  • Hedergott A; Department of Ophthalmology, University Hospital Cologne, Joseph Stelzmann Str.9, D-50931, Cologne, Germany. a.schild@gmx.de.
  • Volk AE; Institute of Human Genetics, Ulm University, 89081, Ulm, Germany.
  • Herkenrath P; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Thiele H; Department of Paediatrics, University Hospital Cologne, 50931, Cologne, Germany.
  • Fricke J; Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.
  • Altmüller J; Department of Ophthalmology, University Hospital Cologne, Joseph Stelzmann Str.9, D-50931, Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.
  • Kubisch C; Institute of Human Genetics, University Hospital Cologne, 50931, Cologne, Germany.
  • Neugebauer A; Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.
Graefes Arch Clin Exp Ophthalmol ; 253(12): 2239-46, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26464178
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Amaurosis Congénita de Leber / Nicotinamida-Nucleótido Adenililtransferasa Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: Graefes Arch Clin Exp Ophthalmol Año: 2015 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Amaurosis Congénita de Leber / Nicotinamida-Nucleótido Adenililtransferasa Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: Graefes Arch Clin Exp Ophthalmol Año: 2015 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania