Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome

Célia Nogueira, Jorge Sales Marques, Claudia Nesti, Luisa Azevedo, Martina Di Lullo, M. Chiara Meschini, Antonio Orlacchio, Filippo M. Santorelli, Laura Vilarinho

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)493-494
Number of pages2
JournalMolecular Genetics and Metabolism
Issue number4
Publication statusPublished - 2013


  • C10orf2
  • Chromosome 10
  • MDS
  • Twinkle
  • Uniparental disomy

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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