Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene
Top Cited Papers
- 1 September 2006
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 79 (3) , 544-548
- https://doi.org/10.1086/506913
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Systematic identification of human mitochondrial disease genes through integrative genomicsNature Genetics, 2006
- MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionNature Genetics, 2006
- Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA DepletionAmerican Journal of Human Genetics, 2005
- POLG mutations and Alpers syndromeAnnals of Neurology, 2005
- Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- ABrain, 2005
- POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletionAnnals of Neurology, 2004
- Mitochondrial DNA depletion and dGK gene mutationsAnnals of Neurology, 2002
- Navajo Neurohepatopathy: A Mitochondrial Dna Depletion Syndrome?Hepatology, 2001
- Transgenic mouse model of kidney disease: Insertional inactivation of ubiquitously expressed gene leads to nephrotic syndromeCell, 1990
- Acromutilating, Paralyzing Neuropathy With Corneal Ulceration in Navajo ChildrenArchives of Neurology, 1976