Your browser doesn't support javascript.
loading
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Jurkute, Neringa; D'Esposito, Fabiana; Robson, Anthony G; Pitceathly, Robert D S; Cordeiro, Francesca; Raymond, F Lucy; Moore, Anthony T; Michaelides, Michel; Yu-Wai-Man, Patrick; Webster, Andrew R; Arno, Gavin.
Afiliação
  • Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
  • D'Esposito F; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Robson AG; Imperial College Ophthalmic Research Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Pitceathly RDS; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, Federico II University, Naples, Italy.
  • Cordeiro F; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
  • Raymond FL; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Moore AT; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom.
  • Michaelides M; Imperial College Ophthalmic Research Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London, United Kingdom.
  • Yu-Wai-Man P; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Webster AR; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
  • Arno G; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
Invest Ophthalmol Vis Sci ; 62(15): 12, 2021 12 01.
Article em En | MEDLINE | ID: mdl-34905022
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Atrofia Óptica / Mutação de Sentido Incorreto / Doenças Mitocondriais / Proteínas Mitocondriais / Proteínas de Ligação a DNA / Distrofias Retinianas / Genes Recessivos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Atrofia Óptica / Mutação de Sentido Incorreto / Doenças Mitocondriais / Proteínas Mitocondriais / Proteínas de Ligação a DNA / Distrofias Retinianas / Genes Recessivos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article