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.
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| Description | scientific article published on 27 July 2016 |
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author: Marek Vrbacký Kateřina Hodaňová Veronika Barešová Ivana Jedličková Anna Přistoupilová Kateřina Tauchmannová Jana Sovová Helena Hůlková Viktor Stránecký Lenka Piherová Petr Pecina Tomáš Mráček Hana Hartmannová Martina Živná |
| Publication date | July 27, 2016 |
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