|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
|
30833296 |
2019 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
|
29282788 |
2018 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.
|
28207748 |
2017 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
|
26741492 |
2016 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
|
27536553 |
2016 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.
|
25861990 |
2015 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
|
23829229 |
2014 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mitochondrial DNA depletion syndrome causing liver failure.
|
25129007 |
2014 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
|
23714749 |
2014 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
|
20074988 |
2010 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
|
19520594 |
2009 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
|
18695062 |
2008 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
|
17694548 |
2007 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
|
16582910 |
2006 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Systematic identification of human mitochondrial disease genes through integrative genomics.
|
16582907 |
2006 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
|
16909392 |
2006 |
|
NAVAJO NEUROHEPATOPATHY
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|