Your browser doesn't support javascript.
loading
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Runhart, Esmee H; Sangermano, Riccardo; Cornelis, Stéphanie S; Verheij, Joke B G M; Plomp, Astrid S; Boon, Camiel J F; Lugtenberg, Dorien; Roosing, Susanne; Bax, Nathalie M; Blokland, Ellen A W; Jacobs-Camps, Marlie H M; van der Velde-Visser, Saskia D; Pott, Jan-Willem R; Rohrschneider, Klaus; Thiadens, Alberta A H J; Klaver, Caroline C W; van den Born, L Ingeborgh; Hoyng, Carel B; Cremers, Frans P M.
Afiliación
  • Runhart EH; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Sangermano R; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Cornelis SS; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Verheij JBGM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Plomp AS; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Boon CJF; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Roosing S; Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Bax NM; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Blokland EAW; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
  • Jacobs-Camps MHM; Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands.
  • van der Velde-Visser SD; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pott JR; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rohrschneider K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Thiadens AAHJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Klaver CCW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van den Born LI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoyng CB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Cremers FPM; Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Invest Ophthalmol Vis Sci ; 59(8): 3220-3231, 2018 07 02.
Article en En | MEDLINE | ID: mdl-29971439
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Transportadoras de Casetes de Unión a ATP / Polimorfismo de Nucleótido Simple / Degeneración Macular / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Transportadoras de Casetes de Unión a ATP / Polimorfismo de Nucleótido Simple / Degeneración Macular / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos