Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
scientific article published on 27 July 2016
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author: Hana Hartmannová, Helena Hůlková, Lenka Piherová, Kateřina Tauchmannová, Kateřina Hodaňová, Viktor Stránecký, Anna Přistoupilová, Veronika Barešová, Ivana Jedličková, Marek Vrbacký, Petr Pecina, Tomáš Mráček, Martina Živná, Jana Sovová
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