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A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
Jahic, Amir; Kreuz, Friedmar; Zacher, Pia; Fiedler, Jana; Bier, Andrea; Reif, Silke; Rieger, Manuela; Krüger, Stefan; Beetz, Christian; Plaschke, Jens.
Afiliação
  • Jahic A; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.
  • Kreuz F; Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.
  • Zacher P; Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany; Masters Program General Medicine, Charles University, Prague, Czech Republic.
  • Fiedler J; Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.
  • Bier A; Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.
  • Reif S; Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.
  • Rieger M; Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.
  • Krüger S; Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.
  • Beetz C; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany. Electronic address: christian.beetz@med.uni-jena.de.
  • Plaschke J; Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.
J Neurol Sci ; 347(1-2): 372-4, 2014 Dec 15.
Article em En | MEDLINE | ID: mdl-25454649
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2014 Tipo de documento: Article