Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

Hoefs, Saskia J.G. ; Skjeldal, Ola H. ; Rodenburg, Richard J. ; Nedregaard, Bård ; van Kaauwen, Edwin P.M. ; Spiekerkötter, Ute ; von Kleist-Retzow, Jürgen-Christoph ; Smeitink, Jan A.M. ; Nijtmans, Leo G. ; van den Heuvel, Lambert P.

Molecular genetics and metabolism, 2010-07, Vol.100 (3), p.251-256 [Periódico revisado por pares]

United States: Elsevier Inc

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