Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome-Reference-Cited by-同舟云学术

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

Published:1999-06 Issue:2 Volume:22 Page:175-177
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Houten Sander M.,Kuis Wietse,Duran Marinus,de Koning Tom J.,van Royen-Kerkhof Annet,Romeijn Gerrit J.,Frenkel Joost,Dorland Lambertus,de Barse Martina M.J.,Huijbers Wim A.R.,Rijkers Ger T.,Waterham Hans R.,Wanders Ronald J.A.,Poll-The Bwee Tien

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0699_175.pdf

Reference13 articles.

1. van der Meer, J.W.M. et al. Hyperimmunoglobulinemia D and periodic fever: a new syndrome. Lancet 1, 1087– 1090 (1984).

2. Drenth, J.P.H., Haagsma, C.J., van der Meer, J.W.M. & The International Hyper-IgD Study Group Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine 73, 133–144 (1994).

3. Biardi, L. et al. Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisomal disorders. J. Biol. Chem. 269, 1197–1205 ( 1994).

4. Goldstein, J.L. & Brown, M.S. Regulation of the mevalonate pathway. Nature 343, 425– 430 (1990).

5. Hoffmann, G. et al. Mevalonic aciduria—an inborn error of cholesterol and nonsterol isoprene biosynthesis. N. Engl. J. Med. 314 , 1610–1614 (1986).

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