A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome

Molecular Genetics and Metabolism Reports - Tập 32 - Trang 100887 - 2022
Monica Fumagalli1,2, Dario Ronchi3, Maria Francesca Bedeschi4, Arianna Manini3, Gloria Cristofori1, Fabio Mosca1,2, Robertino Dilena5, Monica Sciacco6, Simona Zanotti6, Daniela Piga7, Gianluigi Ardissino8, Fabio Triulzi3,9, Stefania Corti3,7, Giacomo P. Comi3,6, Leonardo Salviati10,11
1Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy
2University of Milan, Department of Clinical Sciences and Community Health, Milan, Italy
3Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
4Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UOD Medical Genetics, Milan, Italy
5Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UO Neurophysiology,Milan, Italy
6Fondazione IRCCS CCà Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy
7Fondazione IRCCS CCà Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy
8Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UO Nefrologia, Dialisi E Trapianto Pediatrico, Milan, Italy
9Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Unit of Neuroradiology, Milan, Italy
10Clinical Genetics Unit, Department of Women's and Children's Health, and Myology Center, University of Padova, Padova, Italy
11IRP Città della Speranza, Padova, Italy

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Molecular Genetics and Metabolism Reports

Tập 32

100887

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