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Title:

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Document type:
Zeitschriftenaufsatz
Author(s):
Alston, Charlotte L.; Heidler, Juliana; Dibley, Marris G.; Kremer, Laura S.; Taylor, Lucie S.; Fratter, Carl; French, Courtney E.; Glasgow, Ruth I.C.; Feichtinger, René G.; Delon, Isabelle; Pagnamenta, Alistair T.; Dolling, Helen; Lemonde, Hugh; Aiton, Neil; Bjørnstad, Alf; Henneke, Lisa; Gärtner, Jutta; Thiele, Holger; Tauchmannova, Katerina; Quaghebeur, Gerardine; Houstek, Josef; Sperl, Wolfgang; Raymond, F. Lucy; Prokisch, Holger; Mayr, Johannes A.; McFarland, Robert; Poulton, Joanna; Ryan, M...     »
Journal title:
The American Journal of Human Genetics
Year:
2018
Journal volume:
103
Journal issue:
4
Pages contribution:
592-601
Fulltext / DOI:
doi:10.1016/j.ajhg.2018.08.013
Publisher:
Elsevier BV
E-ISSN:
0002-9297
Date of publication:
01.10.2018
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