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Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency

Abstract:

Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding the complex I structural subunits or assembly factors. Such genetic heterogeneity means that application of next-generation sequencing technologies to undiagnosed cohorts has been a catalyst for genetic diagnosis and gene-disease associations. We describe the clinical and molecular genetic i...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.ajhg.2018.08.013

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Funding agency for:
Poulton, J
Publisher:
Cell Press Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
103
Issue:
4
Pages:
592-601
Publication date:
2018-09-20
Acceptance date:
2018-08-22
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pubs id:
pubs:921620
URN:
uri:4bc8adf3-e861-4e5f-85bb-976ccb60ffb8
UUID:
uuid:4bc8adf3-e861-4e5f-85bb-976ccb60ffb8
Local pid:
pubs:921620

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