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Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Priolo, Manuela; Zara, Erika; Radio, Francesca Clementina; Ciolfi, Andrea; Spadaro, Francesca; Bellacchio, Emanuele; Mancini, Cecilia; Pantaleoni, Francesca; Cordeddu, Viviana; Chiriatti, Luigi; Niceta, Marcello; Africa, Emilio; Mammì, Corrado; Melis, Daniela; Coppola, Simona; Tartaglia, Marco.
Afiliación
  • Priolo M; USD Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, 89124, Reggio Calabria, Italy. prioloma@libero.it.
  • Zara E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Radio FC; Department of Biology and Biotechnology, Sapienza University, 00185, Rome, Italy.
  • Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Spadaro F; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Bellacchio E; Core Facilities, Istituto Superiore di Sanità, 00161, Rome, Italy.
  • Mancini C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Pantaleoni F; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Cordeddu V; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Chiriatti L; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161, Rome, Italy.
  • Niceta M; USD Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, 89124, Reggio Calabria, Italy.
  • Africa E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Mammì C; USD Neuroradiologia, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, 89124, Reggio Calabria, Italy.
  • Melis D; USD Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, 89124, Reggio Calabria, Italy.
  • Coppola S; Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Università di Salerno, 84084, Salerno, Italy.
  • Tartaglia M; National Center for Rare Diseases, Istituto Superiore di Sanità, 00161, Rome, Italy.
Eur J Hum Genet ; 31(7): 805-814, 2023 07.
Article en En | MEDLINE | ID: mdl-37059841
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteína de Unión al GTP rac1 / Trastornos del Neurodesarrollo Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteína de Unión al GTP rac1 / Trastornos del Neurodesarrollo Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Italia