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Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Frecer, Vladimir; Iarossi, Giancarlo; Salvetti, Anna Paola; Maltese, Paolo Enrico; Delledonne, Giulia; Oldani, Marta; Staurenghi, Giovanni; Falsini, Benedetto; Minnella, Angelo Maria; Ziccardi, Lucia; Magli, Adriano; Colombo, Leonardo; D'Esposito, Fabiana; Miertus, Jan; Viola, Francesco; Attanasio, Marcella; Maggio, Emilia; Bertelli, Matteo.
Afiliação
  • Frecer V; Department of Physical Chemistry of Drugs, Faculty of Pharmacy, Comenius University in Bratislava, Bratislava, Slovakia.
  • Iarossi G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
  • Salvetti AP; Department of Biomedical and Clinical Sciences "Luigi Sacco", Sacco Hospital, University of Milan, Milan, Italy.
  • Maltese PE; MAGI'S Lab S.R.L., Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy. paolo.maltese@assomagi.org.
  • Delledonne G; Department of Biomedical and Clinical Sciences "Luigi Sacco", Sacco Hospital, University of Milan, Milan, Italy.
  • Oldani M; Department of Biomedical and Clinical Sciences "Luigi Sacco", Sacco Hospital, University of Milan, Milan, Italy.
  • Staurenghi G; Department of Biomedical and Clinical Sciences "Luigi Sacco", Sacco Hospital, University of Milan, Milan, Italy.
  • Falsini B; Institute of Ophthalmology, Visual Electrophysiology Service, Fondazione Policlinico Gemelli/UniversitàCattolica del S. Cuore, Rome, Italy.
  • Minnella AM; Institute of Ophthalmology, Visual Electrophysiology Service, Fondazione Policlinico Gemelli/UniversitàCattolica del S. Cuore, Rome, Italy.
  • Ziccardi L; Neurophthalmology and Neurophysiology Unit, GB Bietti Foundation-IRCCS, Rome, Italy.
  • Magli A; Department of Ophthalmology, Orthoptic and Pediatric Ophthalmology, University of Salerno, Salerno, Italy.
  • Colombo L; Department of Ophthalmology, San Paolo Hospital, University of Milan, Milan, Italy.
  • D'Esposito F; Imperial College Ophthalmic Research Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London, UK.
  • Miertus J; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.
  • Viola F; MAGI Euregio, Bolzano, Italy.
  • Attanasio M; Genius n.o., Trnava, Slovakia.
  • Maggio E; Department of Ophthalmology, Fondazione IRCCS Cà Granda, Clinica Regina Elena, Milan, Italy.
  • Bertelli M; IRCCS-Ospedale Sacro Cuore Don Calabria, Negrar, VR, Italy.
J Transl Med ; 17(1): 330, 2019 10 01.
Article em En | MEDLINE | ID: mdl-31570112
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Biologia Computacional / Distrofia Macular Viteliforme / Bestrofinas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Biologia Computacional / Distrofia Macular Viteliforme / Bestrofinas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2019 Tipo de documento: Article