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Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.
Maroofian, Reza; Sedmík, Jirí; Mazaheri, Neda; Scala, Marcello; Zaki, Maha S; Keegan, Liam P; Azizimalamiri, Reza; Issa, Mahmoud; Shariati, Gholamreza; Sedaghat, Alireza; Beetz, Christian; Bauer, Peter; Galehdari, Hamid; O'Connell, Mary A; Houlden, Henry.
Afiliação
  • Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Sedmík J; CEITEC, Masaryk University, Kamenice 735/5, A35, Brno 62500, Czech Republic.
  • Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Scala M; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Zaki MS; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy.
  • Keegan LP; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Azizimalamiri R; CEITEC, Masaryk University, Kamenice 735/5, A35, Brno 62500, Czech Republic.
  • Issa M; Department of Paediatric Neurology, Golestan, Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Behbahan, Iran.
  • Shariati G; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Sedaghat A; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Behbahan, Iran.
  • Beetz C; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran.
  • Bauer P; CENTOGENE AG, Rostock, Germany.
  • Galehdari H; CENTOGENE AG, Rostock, Germany.
  • O'Connell MA; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Houlden H; CEITEC, Masaryk University, Kamenice 735/5, A35, Brno 62500, Czech Republic h.houlden@ucl.ac.uk mary.oconnell@ceitec.muni.cz.
J Med Genet ; 58(7): 495-504, 2021 07.
Article em En | MEDLINE | ID: mdl-32719099
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / RNA de Cadeia Dupla / Adenosina Desaminase / Proteínas de Ligação a RNA / Epilepsia / Transtornos do Neurodesenvolvimento 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: Encefalopatias / RNA de Cadeia Dupla / Adenosina Desaminase / Proteínas de Ligação a RNA / Epilepsia / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2021 Tipo de documento: Article