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

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dc.contributor.authorAlston, Charlotte Len
dc.contributor.authorHeidler, Julianaen
dc.contributor.authorDibley, Marris Gen
dc.contributor.authorKremer, Laura Sen
dc.contributor.authorTaylor, Lucie Sen
dc.contributor.authorFratter, Carlen
dc.contributor.authorFrench, Courtneyen
dc.contributor.authorGlasgow, Ruth ICen
dc.contributor.authorFeichtinger, René Gen
dc.contributor.authorDelon, Isabelleen
dc.contributor.authorPagnamenta, Alistair Ten
dc.contributor.authorDolling, Helenen
dc.contributor.authorLemonde, Hughen
dc.contributor.authorAiton, Neilen
dc.contributor.authorBjørnstad, Alfen
dc.contributor.authorHenneke, Lisaen
dc.contributor.authorGärtner, Juttaen
dc.contributor.authorThiele, Holgeren
dc.contributor.authorTauchmannova, Katerinaen
dc.contributor.authorQuaghebeur, Gerardineen
dc.contributor.authorHoustek, Josefen
dc.contributor.authorSperl, Wolfgangen
dc.contributor.authorRaymond, Lucyen
dc.contributor.authorProkisch, Holgeren
dc.contributor.authorMayr, Johannes Aen
dc.contributor.authorMcFarland, Roberten
dc.contributor.authorPoulton, Joannaen
dc.contributor.authorRyan, Michael Ten
dc.contributor.authorWittig, Ilkaen
dc.contributor.authorHenneke, Marcoen
dc.contributor.authorTaylor, Robert Wen
dc.date.accessioned2019-05-21T23:30:13Z
dc.date.available2019-05-21T23:30:13Z
dc.date.issued2018-10en
dc.identifier.issn0002-9297
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/293025
dc.format.mediumPrint-Electronicen
dc.languageengen
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectMitochondriaen
dc.subjectFibroblastsen
dc.subjectHumansen
dc.subjectMitochondrial Diseasesen
dc.subjectElectron Transport Complex Ien
dc.subjectMitochondrial Proteinsen
dc.subjectSequence Alignmenten
dc.subjectAmino Acid Sequenceen
dc.subjectPhenotypeen
dc.subjectGenetic Heterogeneityen
dc.subjectMutationen
dc.subjectAllelesen
dc.subjectInfanten
dc.subjectFemaleen
dc.subjectMaleen
dc.titleBi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.en
dc.typeArticle
prism.endingPage601
prism.issueIdentifier4en
prism.publicationDate2018en
prism.publicationNameAmerican journal of human geneticsen
prism.startingPage592
prism.volume103en
dc.identifier.doi10.17863/CAM.40176
dcterms.dateAccepted2018-08-22en
rioxxterms.versionofrecord10.1016/j.ajhg.2018.08.013en
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2018-10en
dc.contributor.orcidAlston, Charlotte L [0000-0003-2095-5464]
dc.contributor.orcidFrench, Courtney [0000-0001-7620-1544]
dc.contributor.orcidDolling, Helen [0000-0001-6279-3622]
dc.contributor.orcidAiton, Neil [0000-0001-9762-1169]
dc.contributor.orcidTauchmannova, Katerina [0000-0002-3745-8790]
dc.contributor.orcidRaymond, Lucy [0000-0003-2652-3355]
dc.contributor.orcidMcFarland, Robert [0000-0002-8833-2688]
dc.contributor.orcidPoulton, Joanna [0000-0002-2460-5587]
dc.contributor.orcidRyan, Michael T [0000-0003-2586-8829]
dc.identifier.eissn1537-6605
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idEuropean Commission Horizon 2020 (H2020) Societal Challenges (633974)


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Except where otherwise noted, this item's licence is described as Attribution 4.0 International