Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry
- 1 August 1999
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 65 (2) , 327-335
- https://doi.org/10.1086/302489
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Post-translational regulation of mevalonate kinase by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathwaysJournal of Lipid Research, 1997
- Identification and Functional Characterization of an Active-site Lysine in Mevalonate KinasePublished by Elsevier ,1997
- Molecular Cloning of Human Phosphomevalonate Kinase and Identification of a Consensus Peroxisomal Targeting SequenceJournal of Biological Chemistry, 1996
- Late‐onset holocarboxylase synthetase deficiencyJournal of Inherited Metabolic Disease, 1996
- Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiencyJournal of Inherited Metabolic Disease, 1995
- Molecular Cloning of the Mature NAD+-dependent Succinic Semialdehyde Dehydrogenase from Rat and HumanPublished by Elsevier ,1995
- Mevalonic aciduria in 3 siblings: A new recognizable metabolic encephalopathyPediatric Neurology, 1993
- Mevalonic aciduriaJournal of Inherited Metabolic Disease, 1991
- Molecular cloning of mevalonate kinase and regulation of its mRNA levels in rat liver.Proceedings of the National Academy of Sciences, 1990
- Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene BiosynthesisNew England Journal of Medicine, 1986