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A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.
Broeders, Mike; Smits, Kasper; Goynuk, Busra; Oussoren, Esmee; van den Hout, Hannerieke J M P; Bergsma, Atze J; van der Ploeg, Ans T; Pijnappel, W W M Pim.
Afiliação
  • Broeders M; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Smits K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Goynuk B; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Oussoren E; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • van den Hout HJMP; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Bergsma AJ; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • van der Ploeg AT; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Pijnappel WWMP; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Mol Ther Methods Clin Dev ; 19: 174-185, 2020 Dec 11.
Article em En | MEDLINE | ID: mdl-33209960
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Mol Ther Methods Clin Dev Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Mol Ther Methods Clin Dev Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos