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

Authors

Keywords

FBXL4, c.1442T>C, p.Leu481Pro, Mitochondrial disorder, mtDNA depletion, MTDPS13

Journal

Volume 59, Issue 6-7, Pages 342-346

Publisher

Elsevier BV

Online

2016-05-14

DOI

10.1016/j.ejmg.2016.05.005

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