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1 Ergebnisse
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Acadian variant of Fanconi syndrome is caused by mitochondr..:
Hartmannová, Hana
;
Piherová, Lenka
;
Tauchmannová, Kateřina
...
Human Molecular Genetics. 25 (2016) 18 - p. 4062-4079 , 2016
Link:
https://doi.org/10.1093/hmg/ddw245
RT Journal T1
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
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddw245&Exemplar=1&LAN=DE A1 Hartmannová, Hana A1 Piherová, Lenka A1 Tauchmannová, Kateřina A1 Kidd, Kendrah A1 Acott, Philip D. A1 Crocker, John F. S. A1 Oussedik, Youcef A1 Mallet, Marcel A1 Hodaňová, Kateřina A1 Stránecký, Viktor A1 Přistoupilová, Anna A1 Barešová, Veronika A1 Jedličková, Ivana A1 Živná, Martina A1 Sovová, Jana A1 Hůlková, Helena A1 Robins, Vicki A1 Vrbacký, Marek A1 Pecina, Petr A1 Kaplanová, Vilma A1 Houštěk, Josef A1 Mráček, Tomáš A1 Thibeault, Yves A1 Bleyer, Anthony J. A1 Kmoch, Stanislav PB Oxford University Press (OUP) YR 2016 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 25 IS 18 SP 4062 OP 4079 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddw245 DO https://doi.org/10.1093/hmg/ddw245 SF ELIB - SuUB Bremen
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