Dominant Mutations in Mtdna Maintenance Gene SSBP1 Cause Optic Atrophy and Foveopathy
Camille Piro-Megy,Emmanuelle Sarzi,Aleix Tarres-Sole,Marie Pequignot,Fenna Hensen,Melanie Quiles,Gael Manes,Arka Chakraborty,Audrey Senechal,Beatrice Bocquet,Chantal Cazevieille,Agathe Roubertie,Agnes Muller,Majida Charif,David Goudenege,Guy Lenaers,Helmut Wilhelm,Ulrich Kellner,Nicole Weisschuh,Bernd Wissinger,Xavier Zanlonghi,Christian Hamel,Johannes N. Spelbrink,Maria Sola,Cecile Delettre Journal of Clinical Investigation(2019)
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