Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711765
Reference8 articles.
1. Biardi L, Sreedhar A, Zokaei A et al (1994) Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders.J Biol Chem 269: 1197?1205.
2. Bothwell A, Yancopoulos GD, Alt FW (1990)Methods for Cloning and Analysis of Eukaryotic Genes. Boston: Jones and Bartlett, 3?21.
3. DiLella AG, Woo SLC (1987) Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride.Methods Enzymol 152: 447?451.
4. Gibson KM, Hoffmann G, Nyhan WL et al (1987) Mevalonic aciduria: family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis.J Inher Metab Dis 10 (Supplement 2): 282?285.
5. Gibson KM, Lohr JL, Broock RL et al (1989) Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.Enzyme 41: 47?55.
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1. 25-Hydroxycholesterol and inflammation in Lovastatin-deregulated mevalonate pathway;The International Journal of Biochemistry & Cell Biology;2017-11
2. Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry;The American Journal of Human Genetics;1999-08
3. Mevalonic acidemia: First case of Japan;Japanese Journal of Human Genetics;1997-09
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