학술논문
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
Document Type
Article
Author
Ganapathi, M.; Tanji, K.; Friocourt, G.; Le Gac, G.; Loaëc, N.; Ludwig, T.; Ka, C.; Voisset, C.; Blondel, M.; Ferec, C.; Le Marechal, C.; Gueguen, N.; Procaccio, V.; Friederich, M.W.; Strode, D.K.; Van Hove, J.L.K.; Okur, V.; LeDuc, C.; Iglesias, A.; Chung, W.K.; Marcorelles, P.; Bourhis, A.; Theodorou, E.; Briere, L.C.; Rogers, C.A.; Sweetser, D.A.; High, F.A.; Lignelli-Dipple, A.; Cooper, C.; Walker, M.A.; Hagen, J.; Shen, Y.; Muraresku, C.; Goldstein, A.; Ganetzky, R.; Garenne, A.; Lelez-Soquet, S.; Bizargity, P.
Source
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, September 2022, 45(5):996-1012)
Subject
Language
English
ISSN
15732665
01418955
01418955