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Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.
Smigiel, Robert; Kostrzewa, Grazyna; Kosinska, Joanna; Pollak, Agnieszka; Stawinski, Piotr; Szmida, Elzbieta; Bloch, Michal; Szymanska, Krystyna; Karpinski, Pawel; Sasiadek, Maria M; Ploski, Rafal.
Afiliação
  • Smigiel R; Department of Paediatrics, Wroclaw Medical University, Wroclaw, Poland.
  • Kostrzewa G; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Kosinska J; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Pollak A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Stawinski P; World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
  • Szmida E; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
  • Bloch M; Department of Paediatrics, Wroclaw Medical University, Wroclaw, Poland.
  • Szymanska K; Department of Child Psychiatry, Warsaw Medical University, Warsaw, Poland.
  • Karpinski P; Department of Experimental and Clinical Neuropathology, Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
  • Sasiadek MM; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
  • Ploski R; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
Am J Med Genet A ; 170(12): 3265-3270, 2016 12.
Article em En | MEDLINE | ID: mdl-27605359
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Receptores de N-Metil-D-Aspartato / Epilepsia / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Receptores de N-Metil-D-Aspartato / Epilepsia / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article