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PP03.2 – 2683: Next generation sequencing allows the identification of NDUFS4 defect in a patient with fatal early Leigh syndrome and deficiencies in pyruvate dehydrogenase and multiple respiratory chain complexes
Escobar, J.D. Ortigoza, Oyarzabal, A., Montero, R., Artuch, R., Gort, L., Briones, P., González, B. Pérez, Rodriguez-Pombo, P., Dueñas, B. PérezVolume:
19
Language:
english
Journal:
European Journal of Paediatric Neurology
DOI:
10.1016/s1090-3798(15)30118-5
Date:
May, 2015
File:
PDF, 115 KB
english, 2015