Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in theBCS1Lgene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01160.x/fullpdf
Reference8 articles.
1. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure;de Lonlay;Nat Genet,2001
2. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L;Visapää;Am J Hum Genet,2002
3. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene;De Meirleir;Am J Med Genet,2003
4. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy;Fernandez-Vizarra;Hum Mol Genet,2007
5. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome;Hinson;N Engl J Med,2007
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