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Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska, Anna M; van den Born, L Ingeborgh; van Hagen, P Martin; Stoffels, Monique; Neveling, Kornelia; Henkes, Arjen; Kipping-Geertsema, Mieke; Hoefsloot, Lies H; Hoyng, Carel B; Simon, Anna; den Hollander, Anneke I; Cremers, Frans P M; Collin, Rob W J.
Afiliación
  • Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
  • van Hagen PM; Department of Immunology, Erasmus University Medical Centre, Rotterdam, The Netherlands.
  • Stoffels M; Department of General Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical
  • Neveling K; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Henkes A; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Kipping-Geertsema M; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Hoefsloot LH; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Hoyng CB; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Simon A; Department of General Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical
  • den Hollander AI; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherl
  • Cremers FPM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Collin RWJ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherl
Ophthalmology ; 120(12): 2697-2705, 2013 Dec.
Article en En | MEDLINE | ID: mdl-24084495
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Fosfotransferasas (Aceptor de Grupo Alcohol) / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Ophthalmology Año: 2013 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Fosfotransferasas (Aceptor de Grupo Alcohol) / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Ophthalmology Año: 2013 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos