Publication:
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation (2010)
Author(s): Tuppen HAL, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He LP, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW
- Date: 01-08-2010
- Journal: Molecular Genetics and Metabolism
- Volume: 100
- Issue: 4
- Pages: 345-348
- Publisher: Academic Press
- Publication type: Article
- Bibliographic status: Published
Keywords: Mitochondrial disease
Complex III
BCS1L mutation
Complex assembly
Yeast complementation studies
PROTEIN
ENCEPHALOPATHY
YEAST
Staff
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Dr Bobby McFarland
DoH/HEFCE Clinical Senior Lecturer and Consultant Paediatric Neurologist
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