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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-..:

Alston, Charlotte L ; Heidler, Juliana ; Dibley, Marris G...
Alston , C L , Heidler , J , Dibley , M G , Kremer , L S , Taylor , L S , Fratter , C , French , C E , Glasgow , R I C , Feichtinger , R G , Delon , I , Pagnamenta , A T , Dolling , H , Lemonde , H , Aiton , N , Bjørnstad , A , Henneke , L , Gärtner , J , Thiele , H , Tauchmannova , K , Quaghebeur , G , Houstek , J , Sperl , W , Raymond , F L , Prokisch , H , Mayr , J A , McFarland , R , Poulton , J , Ryan , M T , Wittig , I , Henneke , M & Taylor , R W 2018 , ' Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency ' , American Journal of Human Genetics , vol. 103 , no. 4 , pp. 592-601 . https://doi.org/10.1016/j.ajhg.2018.08.013.  , 2018