Associated Papers
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Shimura M et al.
Orphanet Journal of Rare Diseases, 2020
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J et al.
European Journal of Human Genetics : Ejhg, 2014
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
El-Hattab AW et al.
Molecular Genetics and Metabolism, 2010
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
Wong LJ et al.
Hepatology (baltimore, Md.), 2007
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