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Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Volk, Alexander E; Hedergott, Andrea; Preising, Markus; Rading, Sebastian; Fricke, Julia; Herkenrath, Peter; Nürnberg, Peter; Altmüller, Janine; von Ameln, Simon; Lorenz, Birgit; Neugebauer, Antje; Karsak, Meliha; Kubisch, Christian.
Afiliação
  • Volk AE; Institute of Human Genetics, University Medical Center Hamburg Eppendorf (UKE), Martinistr. 52, 20246, Hamburg, Germany. a.volk@uke.de.
  • Hedergott A; Department of Ophthalmology, Faculty of Medicine, University Hospital Cologne, 50931, Cologne, Germany.
  • Preising M; Department of Ophthalmology, Justus-Liebig-University Giessen, 35392, Giessen, Germany.
  • Rading S; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf (UKE), 20246, Hamburg, Germany.
  • Fricke J; Department of Ophthalmology, Faculty of Medicine, University Hospital Cologne, 50931, Cologne, Germany.
  • Herkenrath P; Department of Paediatrics, University of Cologne, 50931, Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.
  • von Ameln S; Institute of Human Genetics, University of Ulm, 89081, Ulm, Germany.
  • Lorenz B; Department of Ophthalmology, Justus-Liebig-University Giessen, 35392, Giessen, Germany.
  • Neugebauer A; Department of Ophthalmology, University Hospital of Bonn, 53127, Bonn, Germany.
  • Karsak M; Department of Ophthalmology, Faculty of Medicine, University Hospital Cologne, 50931, Cologne, Germany.
  • Kubisch C; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf (UKE), 20246, Hamburg, Germany.
Hum Genet ; 140(8): 1157-1168, 2021 Aug.
Article em En | MEDLINE | ID: mdl-33959807
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Albinismo Oculocutâneo / Oxirredutases Intramoleculares / Mutação de Sentido Incorreto / Nistagmo Congênito / Melaninas Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Albinismo Oculocutâneo / Oxirredutases Intramoleculares / Mutação de Sentido Incorreto / Nistagmo Congênito / Melaninas Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha