Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency

Translated title of the contribution: Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency

H.A. van Wijk, A.C.W. van Wesel, A.A.M. Thomas, G. Rijksen, W.W. van Solinge

Research output: Contribution to journalArticleAcademicpeer-review

Translated title of the contributionEx vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency
Original languageUndefined/Unknown
Pages (from-to)253-263
Number of pages11
JournalBritish Journal of Haematology
Volume125
Publication statusPublished - 2004

Keywords

  • Econometric and Statistical Methods: General
  • Geneeskunde(GENK)
  • Algemeen onderzoek
  • Internal medicine

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