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

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, Michael T.; Wittig, Ilka; Henneke, Marco; Taylor, Robert W.

期刊名称The American Journal of Human Genetics
作者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, Michael T.; Wittig, Ilka; Henneke, Marco; Taylor, Robert W.
卷第103卷
期第4期
印刷ISSN0002-9297
文件大小1464.25KB
发表时间2018-10
DOI10.1016/j.ajhg.2018.08.013
页码592-601

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