(Q40516800)

English

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

scientific article published on April 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

author name string

Florian Hoffmann

1

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Peter Lohse

2

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Silvia Stojanov

3

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Yoon S Shin

4

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Ellen D Renner

5

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Anja Kéry

6

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Stephanie Zellerer

7

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Bernd H Belohradsky

8

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

publication date

1 April 2005

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

European Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

21 September 2017

13

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21 September 2017

4

1 reference

Europe PubMed Central

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21 September 2017

510-512

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201352

0 references

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

Hereditary periodic fever

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

21 January 2018

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

7 January 2021

based on heuristic

inferred from DOI database lookup

Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201352

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201352

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

ResearchGate publication ID

0 references

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