Ratings
0
Nobody has rated this yet. Be the first!
Works
6
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome
Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology.
