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Delineating the expanding phenotype associated with SCAPER gene mutation.
Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J; Hull, Sarah; Lane, Amelia; Robson, Anthony G; Wenger, Olivia; Self, Jay E; Harlalka, Gaurav V; Salter, Claire G; Schema, Lynn; Moss, Timothy J; Cheetham, Michael E; Moore, Anthony T; Raymond, F Lucy; Chen, Rui; Baple, Emma L; Webster, Andrew R; Crosby, Andrew H.
  • Fasham J; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Arno G; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital (Heavitree), Exeter, United Kingdom.
  • Lin S; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Xu M; Moorfields Eye Hospital, London, United Kingdom.
  • Carss KJ; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Hull S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Lane A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Robson AG; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, United Kingdom.
  • Wenger O; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
  • Self JE; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Harlalka GV; Moorfields Eye Hospital, London, United Kingdom.
  • Salter CG; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Schema L; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Moss TJ; Moorfields Eye Hospital, London, United Kingdom.
  • Cheetham ME; New Leaf Center, Clinic for Special Children, Mount Eaton, Ohio.
  • Moore AT; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
  • Raymond FL; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Chen R; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Baple EL; Division of Genetics and Metabolism, University of Minnesota Medical Center - Fairview, Minneapolis, Minnesota.
  • Webster AR; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
  • Crosby AH; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Am J Med Genet A ; 179(8): 1665-1671, 2019 08.
Article en En | MEDLINE | ID: mdl-31192531
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Portadoras / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Portadoras / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article