Výsledky vyhledávání - "Beth A. Filiano"

A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase

Autor: Nancy G. Kennaway, Edgar Davidson, Kristen C. Hoffbuhr, Michael P. King, Mercy M. Davidson, Beth A. Filiano

Publikováno v: The Journal of biological chemistry. 275(18)

A 15-base pair, in-frame, deletion (9480del15) in the mitochondrial DNA (mtDNA)-encoded cytochrome c oxidase subunit III (COX III) gene was identified previously in a patient with recurrent episodes of myoglobinuria and an isolated COX deficiency. Tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a595a2f1de7683d2f339c2b3954cfa2e
https://pubmed.ncbi.nlm.nih.gov/10788526

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