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Keywords: leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)Close
Laura van Berge, Stephanie Dooves, Carola G.M. van Berkel, Emiel Polder, Marjo S. van der Knaap, Gert C. Scheper
Journal: Biochemical Journal
Biochem J (2012) 441 (3): 955–962.
Published: 16 January 2012
... leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) mitochondrial aspartyl-tRNA synthetase (mtAspRS) Different types of mutations have been found in DARS2 , i.e. deletions, nonsense and splice site mutations leading to major alterations at the protein level, and...