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

Dep Farmaceutische wetenschappen

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

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 -