(Q40563606)

21 September 2017

title

Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands (English)

1 reference

21 September 2017

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periodic fever syndrome

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1

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21 September 2017

4

Ronald J A Wanders

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21 September 2017

author name string

Christiaan S van Woerden

series ordinal

2

1 reference

21 September 2017

Frits A Wijburg

series ordinal

3

1 reference

21 September 2017

Hans R Waterham

series ordinal

5

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21 September 2017

language of work or name

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1 February 2003

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European Journal of Human Genetics

21 September 2017

published in

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21 September 2017

volume

11

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21 September 2017

issue

2

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21 September 2017

page(s)

196-200

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200933

21 September 2017

exact match

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cites work

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

TNFRSF1A mutations and autoinflammatory syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Hereditary periodic fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Biochemical and genetic aspects of mevalonate kinase and its deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Regulation of the mevalonate pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

Hyperimmunoglobulinaemia D and periodic fever: a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

A fever gene comes in from the cold

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

inferred from DOI database lookup

7 January 2021

based on heuristic

Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

inferred from DOI database lookup

7 January 2021

based on heuristic

Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200933

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200933

1 reference

Dimensions Publication ID

21 September 2017

1044948010

0 references

1 reference