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Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Bonetti, Gabriele; Cozza, William; Bernini, Andrea; Kaftalli, Jurgen; Mareso, Chiara; Cristofoli, Francesca; Medori, Maria Chiara; Colombo, Leonardo; Martella, Salvatore; Staurenghi, Giovanni; Salvetti, Anna Paola; Falsini, Benedetto; Placidi, Giorgio; Attanasio, Marcella; Pertile, Grazia; Bengala, Mario; Bosello, Francesca; Petracca, Antonio; D'Esposito, Fabiana; Toschi, Benedetta; Lanzetta, Paolo; Ricci, Federico; Viola, Francesco; Marceddu, Giuseppe; Bertelli, Matteo.
Afiliação
  • Bonetti G; MAGI's LAB, 38068 Rovereto, Italy.
  • Cozza W; Department of Pharmaceutical Sciences, University of Perugia, 06123 Perugia, Italy.
  • Bernini A; MAGI Euregio, 39100 Bolzano, Italy.
  • Kaftalli J; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.
  • Mareso C; MAGI Euregio, 39100 Bolzano, Italy.
  • Cristofoli F; MAGI Euregio, 39100 Bolzano, Italy.
  • Medori MC; MAGI Euregio, 39100 Bolzano, Italy.
  • Colombo L; MAGI's LAB, 38068 Rovereto, Italy.
  • Martella S; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy.
  • Staurenghi G; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy.
  • Salvetti AP; Eye Clinic, Department of Biomedical and Clinical Science, Luigi Sacco Hospital, University of Milan, 20157 Milan, Italy.
  • Falsini B; Eye Clinic, Department of Biomedical and Clinical Science, Luigi Sacco Hospital, University of Milan, 20157 Milan, Italy.
  • Placidi G; UOC Oculistica, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Largo Gemelli 8, 00168 Rome, Italy.
  • Attanasio M; Istituto di Oftalmologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168 Rome, Italy.
  • Pertile G; UOC Oculistica, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Largo Gemelli 8, 00168 Rome, Italy.
  • Bengala M; Ospedale Sacrocuore Don Calabria, Viale Luigi Rizzardi, 4, 37024 Negrar di Valpolicella, Italy.
  • Bosello F; Ospedale Sacrocuore Don Calabria, Viale Luigi Rizzardi, 4, 37024 Negrar di Valpolicella, Italy.
  • Petracca A; Medical Genetics Unit, Department of Oncohematology, Policlinico Tor Vergata, 00133 Rome, Italy.
  • D'Esposito F; Department of Surgical Sciences, Dentistry, Paediatrics and Gynaecology, Section of Ophthalmology, University of Verona, 37134 Verona, Italy.
  • Toschi B; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Lanzetta P; MAGI Euregio, 39100 Bolzano, Italy.
  • Ricci F; Imperial College Ophthalmic Research Group (ICORG) Unit, Imperial College, London NW1 5QH, UK.
  • Viola F; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, 80138 Naples, Italy.
  • Marceddu G; Section of Medical Genetics, Department of Medical and Oncological Area, University Hospital of Pisa, 56126 Pisa, Italy.
  • Bertelli M; Department of Medicine-Ophthalmology, University of Udine, 33100 Udine, Italy.
Int J Mol Sci ; 24(23)2023 Nov 28.
Article em En | MEDLINE | ID: mdl-38069202
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Doenças Genéticas Ligadas ao Cromossomo X / Distrofia de Cones Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Doenças Genéticas Ligadas ao Cromossomo X / Distrofia de Cones Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article