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

SM Houten; GJ Romeijn; J Koster; RGF Gray; P Darbyshire; GPA Smit; Hans Klerk; M (Marinus) Duran; KM Gibson; RJA Wanders; HR Waterham

doi:10.1093/hmg/8.8.1523

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

SM Houten, GJ Romeijn, J Koster, RGF Gray, P Darbyshire, GPA Smit, Hans Klerk, M (Marinus) Duran, KM Gibson, RJA Wanders, HR Waterham

Pediatrics

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

62 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1523-1528
Number of pages	6
Journal	Human Molecular Genetics
Volume	8
Issue number	8
DOIs	https://doi.org/10.1093/hmg/8.8.1523
Publication status	Published - 1999

Research programs

EMC MM-01-54-01

Access to Document

10.1093/hmg/8.8.1523

http://hdl.handle.net/1765/59949

Cite this

Houten, SM., Romeijn, GJ., Koster, J., Gray, RGF., Darbyshire, P., Smit, GPA., Klerk, H., Duran, M., Gibson, KM., Wanders, RJA., & Waterham, HR. (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(8), 1523-1528. https://doi.org/10.1093/hmg/8.8.1523

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author = "SM Houten and GJ Romeijn and J Koster and RGF Gray and P Darbyshire and GPA Smit and Hans Klerk and Duran, {M (Marinus)} and KM Gibson and RJA Wanders and HR Waterham",

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Houten, SM, Romeijn, GJ, Koster, J, Gray, RGF, Darbyshire, P, Smit, GPA, Klerk, H, Duran, M, Gibson, KM, Wanders, RJA & Waterham, HR 1999, 'Identification and characterization of three novel missense mutations in'mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis', Human Molecular Genetics, vol. 8, no. 8, pp. 1523-1528. https://doi.org/10.1093/hmg/8.8.1523

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, SM

AU - Romeijn, GJ

AU - Koster, J

AU - Gray, RGF

AU - Darbyshire, P

AU - Smit, GPA

AU - Klerk, Hans

AU - Duran, M (Marinus)

AU - Gibson, KM

AU - Wanders, RJA

AU - Waterham, HR

PY - 1999

Y1 - 1999

U2 - 10.1093/hmg/8.8.1523

DO - 10.1093/hmg/8.8.1523

M3 - Article

SN - 0964-6906

VL - 8

SP - 1523

EP - 1528

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 8

ER -