Pathological Variants in TOP3A Cause Distinct Disorders of Mitochondrial and Nuclear Genome Stability.
Robert Taylor,Direnis Erdinc,Alejandro Rodriguez-Luis,Mahmoud Fassad, Sarah MacKenzie,Christopher Watson,Sebastian Valenzuela, Xie,Katja Menger,Kate Sergeant,Kate Craig,Sila Hopton,Gavin Falkous,Joanna Poulton,Hector Garcia-Moreno,Paola Giunti, Carlos de Moura Aschoff,Jonas Morales Saute,Amelia Kirby,Camilo Toro,Lynne Wolfe,Danica Novacic,Lior Greenbaum,Aviva Eliyahu, Barel,Yair Anikster,Robert McFarland,Grainne Gorman,Andrew Schaefer,Claes Gustafsson,Maria Falkenberg,Thomas Nicholls EMBO Molecular Medicine（2023）
Key words
Bloom syndrome,mitochondrial disease,mtDNA,TOP3A
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