Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation-Reference-Cited by-同舟云学术

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

Published:2004-12-22 Issue:4 Volume:13 Page:510-512
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hoffmann Florian,Lohse Peter,Stojanov Silvia,Shin Yoon S,Renner Ellen D,Kéry Anja,Zellerer Stephanie,Belohradsky Bernd H

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201352.pdf

Reference16 articles.

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2. Drenth JPH, Cuisset L, Grateau G et al: Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 1999; 22: 178–181.

3. Houten SM, Kuis W, Duran M et al: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunglobulinaemia D and periodic fever syndrome. Nat Genet 1999; 22: 175–177.

4. Sarrauste de Menthiere C, Terriere S, Pugnere D et al: INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 2003; 31: 282–285.

5. Drenth JP, van der Meer JW : Hereditary periodic fever. N Engl J Med 2001; 345: 1748–1757.

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