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

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

Central Diagnostic Laboratory

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

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
Original language	Undefined/Unknown
Pages (from-to)	253-263
Number of pages	11
Journal	British Journal of Haematology
Volume	125
Publication status	Published - 2004

Keywords

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

Cite this

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

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK), Algemeen onderzoek, Internal medicine",

author = "\{van Wijk\}, H.A. and \{van Wesel\}, A.C.W. and A.A.M. Thomas and G. Rijksen and \{van Solinge\}, W.W.",

year = "2004",

language = "Undefined/Unknown",

volume = "125",

pages = "253--263",

journal = "British Journal of Haematology",

issn = "0007-1048",

publisher = "John Wiley \& Sons Inc.",

}

TY - JOUR

T1 - Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency

AU - van Wijk, H.A.

AU - van Wesel, A.C.W.

AU - Thomas, A.A.M.

AU - Rijksen, G.

AU - van Solinge, W.W.

PY - 2004

Y1 - 2004

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

KW - Internal medicine

M3 - Article

SN - 0007-1048

VL - 125

SP - 253

EP - 263

JO - British Journal of Haematology

JF - British Journal of Haematology

ER -