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

Autor: Scheper, Gert C.1 gc.scheper@vumc.nl, van der Klok, Thom1, van Andel, Rob J.1, van Berkel, Carola G. M.1, Sissler, Marie2, Smet, Joél3, Muravina, Tatjana I.4, Serkov, Sergey V.5, Uziel, Graziella6, Bugiani, Marianna6, Schiffmann, Raphael7, Krägeloh-Mann, Ingeborg8, Smeitink, Jan A. M.9, Florentz, Catherine2, Van Coster, Rudy3, Pronk, Jan C.10, van der Knaap, Marjo S.1
Zdroj: Nature Genetics. Apr2007, Vol. 39 Issue 4, p534-539. 6p. 2 Black and White Photographs, 1 Diagram, 5 Charts.
Databáze: Academic Search Ultimate