Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Falco M et al.
American Journal of Medical Genetics. Part A, 2017
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
Zhang J et al.
Gene, 2015
Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
Fernández-Vizarra E et al.
Frontiers in Genetics, 2015
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
Yanagishita T et al.
The British Journal of Dermatology, 2014
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
Siddiqi S et al.
Journal of Human Genetics, 2013
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
Hinson JT et al.
The New England Journal of Medicine, 2007
[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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