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Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P. Salviati L, et al. J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394. J Med Genet. 2012. PMID: 22368301 Free PMC article.
44 results