Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions sy...
Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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English
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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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)...
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Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome
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TN_cdi_proquest_journals_2070370945
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2070370945
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E-ISSN
2692-8205
DOI
10.1101/089292
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https://www.proquest.com/docview/2070370945?pq-origsite=primo&accountid=13902
