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Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome.
Garau, Jessica; Masnada, Silvia; Dragoni, Francesca; Sproviero, Daisy; Fogolari, Federico; Gagliardi, Stella; Izzo, Giana; Varesio, Costanza; Orcesi, Simona; Veggiotti, Pierangelo; Zuccotti, Gian Vincenzo; Pansarasa, Orietta; Tonduti, Davide; Cereda, Cristina.
Afiliação
  • Garau J; Genomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Masnada S; Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.
  • Dragoni F; C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.
  • Sproviero D; Genomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Fogolari F; Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
  • Gagliardi S; Genomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Izzo G; Department of Mathematics, Computer Science and Physics, University of Udine, Udine, Italy.
  • Varesio C; Genomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Orcesi S; C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.
  • Veggiotti P; Department of Pediatric Radiology and Neuroradiology, V. Buzzi Children's Hospital, Milan, Italy.
  • Zuccotti GV; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
  • Pansarasa O; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Tonduti D; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
  • Cereda C; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Front Immunol ; 12: 672952, 2021.
Article em En | MEDLINE | ID: mdl-33981319
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribonuclease H / Doenças Autoimunes do Sistema Nervoso / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribonuclease H / Doenças Autoimunes do Sistema Nervoso / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article