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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5.
Nat Genet. 2010.
PMID: 20818383
Free PMC article.
MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake.
Perocchi F, Gohil VM, Girgis HS, Bao XR, McCombs JE, Palmer AE, Mootha VK.
Perocchi F, et al.
Nature. 2010 Sep 16;467(7313):291-6. doi: 10.1038/nature09358. Epub 2010 Aug 8.
Nature. 2010.
PMID: 20693986
Free PMC article.
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