Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene

S. M. Houten; J. Frenkel; W. Kuis; R. J. Wanders; B. T. Poll-The; H. R. Waterham

doi:https://doi.org/10.1023/A:1005687415434

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene

S. M. Houten, J. Frenkel, W. Kuis, R. J. Wanders, B. T. Poll-The, H. R. Waterham

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

19 Citations (Scopus)

Original language	English
Pages (from-to)	367-370
Journal	Journal of Inherited Metabolic Disease
Volume	23
Issue number	4
DOIs	https://doi.org/10.1023/A:1005687415434
Publication status	Published - 2000

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https://doi.org/10.1023/A:1005687415434

Cite this

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title = "Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene",

author = "Houten, {S. M.} and J. Frenkel and W. Kuis and Wanders, {R. J.} and Poll-The, {B. T.} and Waterham, {H. R.}",

year = "2000",

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language = "English",

volume = "23",

pages = "367--370",

journal = "Journal of Inherited Metabolic Disease",

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Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene. / Houten, S. M.; Frenkel, J.; Kuis, W. et al.
In: Journal of Inherited Metabolic Disease, Vol. 23, No. 4, 2000, p. 367-370.

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

TY - JOUR

T1 - Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene

AU - Houten, S. M.

AU - Frenkel, J.

AU - Kuis, W.

AU - Wanders, R. J.

AU - Poll-The, B. T.

AU - Waterham, H. R.

PY - 2000

Y1 - 2000

U2 - https://doi.org/10.1023/A:1005687415434

DO - https://doi.org/10.1023/A:1005687415434

M3 - Article

C2 - 10896296

SN - 0141-8955

VL - 23

SP - 367

EP - 370

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 4

ER -