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Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
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- Author(s): Tort, Frederic; Ferrer-Cortès, Xènia; Thió, Marta; Navarro-Sastre, Aleix; Matalonga, Leslie; Quintana, Ester; Bujan, Núria; Arias, Angela; García-Villoria, Judit; Acquaviva, Cecile; Vianey-Saban, Christine; Artuch, Rafael; García-Cazorla, Àngels; Briones, Paz; Ribes, Antonia
- Source:
Human Molecular Genetics; Apr2014, Vol. 23 Issue 7, p1907-1915, 9p
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