Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency. Structural implications of amino acid substitutions in PK

Translated title of the contribution: Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency. Structural implications of amino acid substitutions in PK

H.A. van Wijk, E.G. Huizinga, A.C.W. van Wesel, B.A. van Oirschot - Hermans, M.A. Hadders, W.W. van Solinge

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contributionFifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency. Structural implications of amino acid substitutions in PK
Original languageUndefined/Unknown
Pages (from-to)446-453
Number of pages8
JournalHuman Mutation
Volume30
Publication statusPublished - 2009

Keywords

  • Epidemiology
  • Farmacie(FARM)
  • Biomedische technologie en medicijnen
  • Ziekenhuisstructuur en organisatie van de gezondheidszorg
  • Public Health

Cite this