Associated Papers
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.
Ballout RA et al.
Frontiers in Genetics, 2019
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW et al.
Human Mutation, 2017
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.
Dai H et al.
Clinical Genetics, 2017
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X et al.
American Journal of Human Genetics, 2013
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