Mutations in the lipoyltransferase LIPT1 gene cause a fatal...

Human Molecular Genetics 2014 / 04 Vol. 23; Iss. 7

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Tort, F., Ferrer-Cortes, X., Thio, M., Navarro-Sastre, A., Matalonga, L., Quintana, E., Bujan, N., Arias, A., Garcia-Villoria, J., Acquaviva, C., Vianey-Saban, C., Artuch, R., Garcia-Cazorla, A., Brio
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Volume:
23
Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddt585
Date:
April, 2014
File:
PDF, 711 KB
english, 2014
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