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1 Ergebnisse
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Dominant mutations in mtDNA maintenance gene SSBP1 cause op..:
Piro-Mégy, Camille
;
Sarzi, Emmanuelle
;
Tarrés-Solé, Aleix
...
Journal of Clinical Investigation. 130 (2019) 1 - p. 143-156 , 2019
Link:
https://doi.org/10.1172/jci128513
RT Journal T1
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1172_jci128513&Exemplar=1&LAN=DE A1 Piro-Mégy, Camille A1 Sarzi, Emmanuelle A1 Tarrés-Solé, Aleix A1 Péquignot, Marie A1 Hensen, Fenna A1 Quilès, Mélanie A1 Manes, Gaël A1 Chakraborty, Arka A1 Sénéchal, Audrey A1 Bocquet, Béatrice A1 Cazevieille, Chantal A1 Roubertie, Agathe A1 Müller, Agnès A1 Charif, Majida A1 Goudenège, David A1 Lenaers, Guy A1 Wilhelm, Helmut A1 Kellner, Ulrich A1 Weisschuh, Nicole A1 Wissinger, Bernd A1 Zanlonghi, Xavier A1 Hamel, Christian A1 Spelbrink, Johannes N. A1 Sola, Maria A1 Delettre, Cécile PB American Society for Clinical Investigation YR 2019 SN 0021-9738 SN 1558-8238 JF Journal of Clinical Investigation VO 130 IS 1 SP 143 OP 156 LK http://dx.doi.org/https://doi.org/10.1172/jci128513 DO https://doi.org/10.1172/jci128513 SF ELIB - SuUB Bremen
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