A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D.
Barøy T, et al. Among authors: frengen e.
Eur J Med Genet. 2016 Jun;59(6-7):342-6. doi: 10.1016/j.ejmg.2016.05.005. Epub 2016 May 13.
Eur J Med Genet. 2016.
PMID: 27182039