Associated Papers
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.
Al Qurashi M et al.
Bmc Medical Genomics, 2022
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Oláhová M et al.
Human Molecular Genetics, 2019
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
Baker RA et al.
American Journal of Medical Genetics. Part A, 2019
Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
Fernández-Vizarra E et al.
Frontiers in Genetics, 2015
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.
Kotarsky H et al.
Mitochondrion, 2010
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
Ramos-Arroyo MA et al.
Clinical Genetics, 2009
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Fernandez-Vizarra E et al.
Human Molecular Genetics, 2007
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
Hinson JT et al.
The New England Journal of Medicine, 2007
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
Visapää I et al.
American Journal of Human Genetics, 2002
[Complex III deficiency due to mutations in the cytochrome b gene].
Ishii A et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases.
Meunier B et al.
Biochimica Et Biophysica Acta, 0
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