Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

被引：0
|
作者：
Vladimir Frecer
Giancarlo Iarossi
Anna Paola Salvetti
Paolo Enrico Maltese
Giulia Delledonne
Marta Oldani
Giovanni Staurenghi
Benedetto Falsini
Angelo Maria Minnella
Lucia Ziccardi
Adriano Magli
Leonardo Colombo
Fabiana D’Esposito
Jan Miertus
Francesco Viola
Marcella Attanasio
Emilia Maggio
Matteo Bertelli
机构：
[1] Comenius University in Bratislava,Department of Physical Chemistry of Drugs, Faculty of Pharmacy
[2] Bambino Gesù IRCCS Children’s Hospital,Department of Ophthalmology
[3] University of Milan,Department of Biomedical and Clinical Sciences “Luigi Sacco”, Sacco Hospital
[4] MAGI’S Lab S.R.L.,Institute of Ophthalmology, Visual Electrophysiology Service
[5] Fondazione Policlinico Gemelli/UniversitàCattolica del S. Cuore,Neurophthalmology and Neurophysiology Unit
[6] GB Bietti Foundation-IRCCS,Department of Ophthalmology, Orthoptic and Pediatric Ophthalmology
[7] University of Salerno,Department of Ophthalmology, San Paolo Hospital
[8] University of Milan,Imperial College Ophthalmic Research Unit, Western Eye Hospital
[9] Imperial College Healthcare NHS Trust,Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry
[10] University of Naples Federico II,Department of Ophthalmology, Fondazione IRCCS Cà Granda
[11] MAGI Euregio,undefined
[12] Genius n.o.,undefined
[13] Clinica Regina Elena,undefined
[14] IRCCS-Ospedale Sacro Cuore Don Calabria,undefined
来源：
Journal of Translational Medicine | / 17卷
关键词：
Best vitelliform macular dystrophy; Best disease; Best-corrected visual acuity; Computational structural biology;
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