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Tolomeo D, Rubegni A, Nesti C, et al. Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission. J Med Genet. 2021;58(8):543-546doi: 10.1136/jmedgenet-2020-107644.
Tolomeo, D., Rubegni, A., Nesti, C., Barghigiani, M., Battini, R., D'Amore, F., Doccini, S., Donati, M. A., Galatolo, D., Giglio, S., Guarducci, S., Pantaleo, M., Pasquariello, R., Procopio, E., Pochiero, F., Tessa, A., & Santorelli, F. M. M. (2021). Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission. Journal of medical genetics, 58(8), 543-546. https://doi.org/10.1136/jmedgenet-2020-107644
Tolomeo, Deborah, et al. "Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission." Journal of medical genetics vol. 58,8 (2021): 543-546. doi: https://doi.org/10.1136/jmedgenet-2020-107644
Tolomeo D, Rubegni A, Nesti C, Barghigiani M, Battini R, D'Amore F, Doccini S, Donati MA, Galatolo D, Giglio S, Guarducci S, Pantaleo M, Pasquariello R, Procopio E, Pochiero F, Tessa A, Santorelli FMM. Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission. J Med Genet. 2021 Aug;58(8):543-546. doi: 10.1136/jmedgenet-2020-107644. Epub 2021 Jun 16. PMID: 34135091.
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J Med Genet. 2021 Aug;58(8):543-546. doi: 10.1136/jmedgenet-2020-107644. Epub 2021 Jun 16.

Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.

Journal of medical genetics

Deborah Tolomeo, Anna Rubegni, Claudia Nesti, Melissa Barghigiani, Roberta Battini, Francesca D'Amore, Stefano Doccini, Maria Alice Donati, Daniele Galatolo, Sabrina Giglio, Silvia Guarducci, Marilena Pantaleo, Rosa Pasquariello, Elena Procopio, Francesca Pochiero, Alessandra Tessa, Filippo M M Santorelli

Affiliations

  1. Neurology, IRCCS Fondazione Stella Maris, Pisa, Toscana, Italy.
  2. Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
  3. Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
  4. Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy, Florence, Italy.
  5. Unit of Medical Genetics, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
  6. Neurology, IRCCS Fondazione Stella Maris, Pisa, Toscana, Italy [email protected].

PMID: 34135091 DOI: 10.1136/jmedgenet-2020-107644

[No abstract available.]

Keywords: DNA; genetics; sequence analysis

Conflict of interest statement

Competing interests: None declared.

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