Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Scheper, Gert C ; Bugiani, Marianna ; Florentz, Catherine ; Van Coster, Rudy ; Smet, Joél ; Schiffmann, Raphael ; van Berkel, Carola G M ; Muravina, Tatjana I ; van der Klok, Thom ; Smeitink, Jan A M ; Pronk, Jan C ; van Andel, Rob J ; Uziel, Graziella ; Krägeloh-Mann, Ingeborg ; Sissler, Marie ; Serkov, Sergey V ; van der Knaap, Marjo S

Nature genetics, 2007-04, Vol.39 (4), p.534-539 [Periódico revisado por pares]

London: Nature Publishing Group

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