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Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx344
Abstract: Abstract SCO1 is a ubiquitously expressed, mitochondrial protein with essential roles in cytochrome c oxidase (COX) assembly and the regulation of copper homeostasis. SCO1 patients present with severe forms of early onset disease, and ultimately…
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Keywords:
heart;
sco1stm stm;
copper homeostasis;
copper ... See more keywords