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A novel recurrent LIS1 splice site mutation in classic lissencephaly.
Philbert, Marion; Maillard, Camille; Cavallin, Mara; Goldenberg, Alice; Masson, Cecile; Boddaert, Nathalie; El Morjani, Adrienne; Steffann, Julie; Chelly, Jamel; Gerard, Xavier; Bahi-Buisson, Nadia.
Afiliação
  • Philbert M; Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Maillard C; INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
  • Cavallin M; Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Goldenberg A; INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
  • Masson C; Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Boddaert N; INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
  • El Morjani A; Service de Génétique, CHU de Rouen et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, Université de Rouen, Rouen, France.
  • Steffann J; Plateforme Bioinformatique, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Chelly J; Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, Paris, France.
  • Gerard X; INSERM U1000 and UMR 1163, Brain Imaging Laboratory "Image at Imagine" Institut Imagine, Paris, France.
  • Bahi-Buisson N; Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
Am J Med Genet A ; 173(2): 561-564, 2017 02.
Article em En | MEDLINE | ID: mdl-27891766
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sítios de Splice de RNA / 1-Alquil-2-acetilglicerofosfocolina Esterase / Lisencefalia / Proteínas Associadas aos Microtúbulos / Mutação Limite: Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sítios de Splice de RNA / 1-Alquil-2-acetilglicerofosfocolina Esterase / Lisencefalia / Proteínas Associadas aos Microtúbulos / Mutação Limite: Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article