Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

• Stefania Zampieri,

  Affiliation Regional Coordinator Center for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

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• Silvia Cattarossi,

  Affiliation Regional Coordinator Center for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

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• Ana Maria Oller Ramirez,

  Affiliation Centro de Estudio de las Metabolopatias Congénitas, CEMECO, University of Córdoba, Córdoba, Argentine

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• Camillo Rosano,

  Affiliation Patologia Molecolare Integrata – A.O.U. IRCSS San Martino – IST, Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy

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• Charles Marques Lourenco,

  Affiliation Medical Genetics Service, Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil

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• Nadia Passon,

  Affiliation Dipartimento di Scienze Mediche e Biologiche, Università di Udine, Udine, Italy

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• Isabella Moroni,

  Affiliation Department of Child Neurology, Fondazione Istituto Neurologico Besta, Milan, Italy

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• Graziella Uziel,

  Affiliation Department of Child Neurology, Fondazione Istituto Neurologico Besta, Milan, Italy

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• Antonella Pettinari,

  Affiliation Laboratorio di Genetica Medica, Clinica Pediatrica, Ospedali Riuniti Ancona, Ancona, Italy

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• Franco Stanzial,

  Affiliation Servizio di Consulenza Genetica, Centro Provinciale di Coordinamento della Rete delle Malattie Rare, Azienda Sanitaria dell’Alto-Adige, Bolzano, Italy

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• Raquel Dodelson de Kremer,

  Affiliation Centro de Estudio de las Metabolopatias Congénitas, CEMECO, University of Córdoba, Córdoba, Argentine

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• Nydia Beatriz Azar,

  Affiliation Centro de Estudio de las Metabolopatias Congénitas, CEMECO, University of Córdoba, Córdoba, Argentine

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• Filiz Hazan,

  Affiliation Medical Faculty, Genetic Department, Izmir, Turkey

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• Mirella Filocamo,

  Affiliation U.O.S.D. Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy

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• Bruno Bembi,

  Affiliation Regional Coordinator Center for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

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•  [ ... ],
• Andrea Dardis

  * E-mail: dardis.andrea@aoud.sanita.fvg.it

  Affiliation Regional Coordinator Center for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

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