Associated Papers
MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome.
Hong KT et al.
The Korean Journal of Gastroenterology = Taehan Sohwagi Hakhoe Chi, 2021
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW et al.
Human Mutation, 2018
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Gilberti M et al.
Plos One, 2018
30273399 (PubMed )
Supplement: pone.0205014.s003.doc
Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome?
Finsterer J et al.
Molecular Genetics and Metabolism Reports, 2016
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
Kim J et al.
Molecular Genetics and Metabolism Reports, 2016
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