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- Title:
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
- Document type:
- Zeitschriftenaufsatz
- Author(s):
- Alston, Charlotte L.; Veling, Mike T.; Heidler, Juliana; Taylor, Lucie S.; Alaimo, Joseph T.; Sung, Andrew Y.; He, Langping; Hopton, Sila; Broomfield, Alexander; Pavaine, Julija; Diaz, Jullianne; Leon, Eyby; Wolf, Philipp; McFarland, Robert; Prokisch, Holger; Wortmann, Saskia B.; Bonnen, Penelope E.; Wittig, Ilka; Pagliarini, David J.; Taylor, Robert W.
- Journal title:
- The American Journal of Human Genetics
- Year:
- 2020
- Journal volume:
- 106
- Journal issue:
- 1
- Pages contribution:
- 92-101
- Fulltext / DOI:
- doi:10.1016/j.ajhg.2019.12.001
- Publisher:
- Elsevier BV
- E-ISSN:
- 0002-9297
- Date of publication:
- 01.01.2020
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