经典型甲羟戊酸尿症以及高免疫球蛋白D血症和周期性发热综合征的分子基础：甲羟戊酸激酶基因中3种突变的高频率 - Suppr

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

作者信息

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

机构信息

Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 2000 Jun;23(4):367-70. doi: 10.1023/a:1005687415434.

DOI:10.1023/a:1005687415434

PMID:10896296

Abstract

摘要

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Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364.

本文引用的文献

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364.

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

Am J Hum Genet. 1999 Aug;65(2):327-35. doi: 10.1086/302489.

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

Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523.

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

Nat Genet. 1999 Jun;22(2):178-81. doi: 10.1038/9696.

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

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J Biol Chem. 1992 Jul 5;267(19):13229-38.

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

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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.

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