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Whole-exome sequencing; Mitochondrial disorders; Mitochondrial disease criteria scale; Neonates; Basal ganglia involvement; Leigh syndrome; 3-methylglutaconic aciduria; Novel mutation; Candidate gene
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doi:10.1186/s12967-016-0930-9
BioMed Central
Journal of Translational Medicine, doi:10.1186/s12967-016-0930-9
Whole-exome sequencing; Mitochondrial disorders; Mitochondrial disease criteria scale; Neonates; Basal ganglia involvement; Leigh syndrome; 3-methylglutaconic aciduria; Novel mutation; Candidate gene
New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
Ewa Pronicka
Dorota Piekutowska-Abramczuk
Elżbieta Ciara
Joanna Trubicka
Dariusz Rokicki
Agnieszka Karkucińska-Więckowska
Magdalena Pajdowska
Elżbieta Jurkiewicz
Paulina Halat
Joanna Kosińska
Agnieszka Pollak
Małgorzata Rydzanicz
Piotr Stawinski
Maciej Pronicki
Małgorzata Krajewska-Walasek
Rafał Płoski
10.1186/s12967-016-0930-9
2010-04-23
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