A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Barøy, Tuva; Pedurupillay, Christeen Ramane J; Bliksrud, Yngve T; Rasmussen, Magnhild; Holmgren, Asbjørn; Vigeland, Magnus D; Hughes, Timothy; Brink, Maaike; Rodenburg, Richard; Nedregaard, Bård; Strømme, Petter; Frengen, Eirik; Misceo, Doriana.
Eur J Med Genet; 59(6-7): 342-6, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27182039