Whole exome sequencing effective at identifying mitochondrial pathogenic mutations
1. The genomic basis of mitochondrial disease is often abstruse and multifactorial. 2. Whole-exome sequencing was able to pinpoint previously ...
Tag: mitochondria
Mitochondrial dysfunction identified in the pathogenesis of renal Fanconi’s syndrome
Image: PD 1. A missense mutation in the gene encoding the enzyme, EHHADH was identified in all members of a ...