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Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.
Costain, Gregory; Ghosh, Manik C; Maio, Nunziata; Carnevale, Amanda; Si, Yue C; Rouault, Tracey A; Yoon, Grace.
Afiliación
  • Costain G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Ghosh MC; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Maio N; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Carnevale A; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Si YC; GeneDx, Gaithersburg, MD, USA.
  • Rouault TA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Brain ; 142(5): 1195-1202, 2019 05 01.
Article en En | MEDLINE | ID: mdl-30915432
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Enfermedades Neurodegenerativas / Proteína 2 Reguladora de Hierro Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Canadá
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Enfermedades Neurodegenerativas / Proteína 2 Reguladora de Hierro Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Canadá