Novel c.<scp>191C</scp>>G (p.<scp>Pro64Arg</scp>) <i><scp>MPV17</scp></i> mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy
Dorota Piekutowska‐Abramczuk(Children's Memorial Health Institute), Ewa Pronicka(Children's Memorial Health Institute), Katarzyna Strawa(Medical University of Warsaw), Rafał Płoski(Medical University of Warsaw), Anna Fidziańska(Mossakowski Medical Research Institute, Polish Academy of Sciences), Tamara Szymańska-Dębińska(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Mariusz R. Wiȩckowski(Polish Academy of Sciences), Irena Jankowska(Children's Memorial Health Institute), Jolanta Sykut‐Cegielska, Agnieszka Karkucińska‐Więckowska(Children's Memorial Health Institute), Maciej Pronicki(Children's Memorial Health Institute), Dorota Jurkiewicz(Children's Memorial Health Institute), Małgorzata Krajewska‐Walasek(Children's Memorial Health Institute)
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