Your browser doesn't support javascript.
loading
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Günther, Sven; Elert-Dobkowska, Ewelina; Soehn, Anne S; Hinreiner, Sophie; Yoon, Grace; Heller, Raoul; Hellenbroich, Yorck; Hübner, Christian A; Ray, Peter N; Hehr, Ute; Bauer, Peter; Sulek, Anna; Beetz, Christian.
Afiliação
  • Günther S; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.
  • Elert-Dobkowska E; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Soehn AS; Institute of Medical Genetics and Applied Genomics, University Hospital of Tuebingen, Tuebingen, Germany.
  • Hinreiner S; Center for Human Genetics, and Department of Human Genetics, University of Regensburg, Regensburg, Germany.
  • Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
  • Heller R; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
  • Hellenbroich Y; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
  • Hübner CA; Department of Human Genetics, Jena University Hospital, Jena, Germany.
  • Ray PN; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hehr U; Center for Human Genetics, and Department of Human Genetics, University of Regensburg, Regensburg, Germany.
  • Bauer P; Institute of Medical Genetics and Applied Genomics, University Hospital of Tuebingen, Tuebingen, Germany.
  • Sulek A; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Beetz C; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.
Hum Mutat ; 37(7): 703-9, 2016 07.
Article em En | MEDLINE | ID: mdl-27071356
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas / Variações do Número de Cópias de DNA Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas / Variações do Número de Cópias de DNA Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha