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mtDNA point mutations are present at various levels of heteroplasmy in human oocytes
Phenotypic consequences of a novelSCO2gene mutation
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy
Significance of respirasomes for the assembly/stability of human respiratory chain complex I.
Changes in globus pallidus with (pre)term kernicterus
COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux
