Article

Homozygous c.259G>A variant in <i>ISCA1</i> is associated with a new multiple mitochondrial dysfunctions syndrome

2016-11-23

Abstract excerpt

The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of multiple mitochondrial dysfunctions syndromes (MMDS) among other human diseases. MMDS are clinically characterized by...

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Literature Corpus work: c277073f-7083-5c1b-a283-4595b369ea39
DOI: 10.1101/089292

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