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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Genetics
Molecular Biology
Internal Medicine
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Authors
Gert Scheper
,
Thom Klok
Rob Andel
,
Carola Berkel
,
Marie Sissler
,
Joél Smet
,
Tatjana Muravina
,
S Serkov
,
Graziella Uziel
,
Marianna Bugiani
,
Raphael Schiffmann
,
Ingeborg Krägeloh‐Mann
,
Jan Smeitink
,
Catherine Florentz
,
Rudy Coster
,
Jan Pronk
+14 authors
,
Marjo Knaap
Journal
Nature Genetics
Published
Mar 25, 2007
DOI
10.1038/ng2013
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