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Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.
Walker, Melissa A; Mohler, Kyle P; Hopkins, Kyle W; Oakley, Derek H; Sweetser, David A; Ibba, Michael; Frosch, Matthew P; Thibert, Ronald L.
Afiliação
  • Walker MA; Division of Child Neurology, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA walker.melissa@mgh.harvard.edu.
  • Mohler KP; Department of Microbiology, Ohio State University, Columbus, OH, USA.
  • Hopkins KW; Department of Microbiology, Ohio State University, Columbus, OH, USA.
  • Oakley DH; Division of Neuropathology, Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
  • Sweetser DA; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA, USA.
  • Ibba M; Department of Microbiology, Ohio State University, Columbus, OH, USA.
  • Frosch MP; Division of Neuropathology, Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
  • Thibert RL; Department of Neurology, Division of Child Neurology, Massachusetts General Hospital, Boston, MA, USA.
J Child Neurol ; 31(9): 1127-37, 2016 08.
Article em En | MEDLINE | ID: mdl-27095821
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina-tRNA Ligase / Epilepsias Mioclônicas / Proteínas Mitocondriais / Epilepsia Resistente a Medicamentos / Heterozigoto / Mutação 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: Fenilalanina-tRNA Ligase / Epilepsias Mioclônicas / Proteínas Mitocondriais / Epilepsia Resistente a Medicamentos / Heterozigoto / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article