A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

Autor: Ngu, Lock Hock, Nijtmans, Leo G., Distelmaier, Felix, Venselaar, Hanka, van Emst-de Vries, Sjenet E., van den Brand, Mariël A.M., Stoltenborg, Berendien J.M., Wintjes, Liesbeth T., Willems, Peter H., van den Heuvel, Lambertus P., Smeitink, Jan A., Rodenburg, Richard J.T.
Zdroj: In BBA - Molecular Basis of Disease 2012 1822(2):168-175
Databáze: ScienceDirect