Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

S.M. Houten; G.J. Romeijn; J.G. Koster; R.G.F. Gray; P. Darbyshire; G.P.A. Smit; J.B.C. de Klerk; M. Duran; K.M. Gibson; R.J.A. Wanders; H.R. Waterham

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

Translated title of the contribution: Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

S.M. Houten
, G.J. Romeijn
, J.G. Koster
, R.G.F. Gray
, P. Darbyshire
, G.P.A. Smit
, J.B.C. de Klerk
, M. Duran
, K.M. Gibson
, R.J.A. Wanders
, H.R. Waterham

Central Diagnostic Laboratory

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

Translated title of the contribution	Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
Original language	Undefined/Unknown
Pages (from-to)	1523-1528
Number of pages	6
Journal	Human Molecular Genetics
Volume	8
Issue number	no. 8
Publication status	Published - 1999

Keywords

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

Cite this

Houten, S. M., Romeijn, G. J., Koster, J. G., Gray, R. G. F., Darbyshire, P., Smit, G. P. A., de Klerk, J. B. C., Duran, M., Gibson, K. M., Wanders, R. J. A., & Waterham, H. R. (1999). Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. Human Molecular Genetics, 8(no. 8), 1523-1528.

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title = "Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis",

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

author = "S.M. Houten and G.J. Romeijn and J.G. Koster and R.G.F. Gray and P. Darbyshire and G.P.A. Smit and \{de Klerk\}, J.B.C. and M. Duran and K.M. Gibson and R.J.A. Wanders and H.R. Waterham",

year = "1999",

language = "Undefined/Unknown",

volume = "8",

pages = "1523--1528",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "no. 8",

}

TY - JOUR

T1 - Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

AU - Houten, S.M.

AU - Romeijn, G.J.

AU - Koster, J.G.

AU - Gray, R.G.F.

AU - Darbyshire, P.

AU - Smit, G.P.A.

AU - de Klerk, J.B.C.

AU - Duran, M.

AU - Gibson, K.M.

AU - Wanders, R.J.A.

AU - Waterham, H.R.

PY - 1999

Y1 - 1999

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0964-6906

VL - 8

SP - 1523

EP - 1528

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - no. 8

ER -