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

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

Dept of Pharmaceutical Sciences

University Medical Center Utrecht

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

Original language	Undefined/Unknown
Pages (from-to)	446-453
Number of pages	8
Journal	Human Mutation
Volume	30
Publication status	Published - 2009

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

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

Cite this

@article{c4c9f53ad1ac46cbb69ed447b60afb20,

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

keywords = "Farmacie/Biofarmaceutische wetenschappen (FARM), Epidemiology, Farmacie(FARM), Biomedische technologie en medicijnen, Ziekenhuisstructuur en organisatie van de gezondheidszorg, Public Health",

author = "\{van Wijk\}, H.A. and E.G. Huizinga and \{van Wesel\}, A.C.W. and \{van Oirschot - Hermans\}, B.A. and M.A. Hadders and \{van Solinge\}, W.W.",

year = "2009",

language = "Undefined/Unknown",

volume = "30",

pages = "446--453",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

}

TY - JOUR

T1 - Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency. Structural implications of amino acid substitutions in PK

AU - van Wijk, H.A.

AU - Huizinga, E.G.

AU - van Wesel, A.C.W.

AU - van Oirschot - Hermans, B.A.

AU - Hadders, M.A.

AU - van Solinge, W.W.

PY - 2009

Y1 - 2009

KW - Farmacie/Biofarmaceutische wetenschappen (FARM)

KW - Epidemiology

KW - Farmacie(FARM)

KW - Biomedische technologie en medicijnen

KW - Ziekenhuisstructuur en organisatie van de gezondheidszorg

KW - Public Health

M3 - Article

SN - 1059-7794

VL - 30

SP - 446

EP - 453

JO - Human Mutation

JF - Human Mutation

ER -