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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg, Bart P; Schouten, Meyke I; de Bot, Susanne T; Vermeer, Sascha; Meijer, Rowdy; Pennings, Maartje; Gilissen, Christian; Willemsen, Michèl Aap; Scheffer, Hans; Kamsteeg, Erik-Jan.
Afiliação
  • van de Warrenburg BP; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schouten MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Bot ST; Department of Human Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Vermeer S; Department of Human Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Meijer R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Willemsen MA; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Scheffer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Eur J Hum Genet ; 24(10): 1460-6, 2016 10.
Article em En | MEDLINE | ID: mdl-27165006
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Ataxia Cerebelar / Exoma 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: Paraplegia Espástica Hereditária / Ataxia Cerebelar / Exoma Idioma: En Ano de publicação: 2016 Tipo de documento: Article