Associated Papers
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
39053894 (PubMed )
Supplement: JIMD-47-1278-s002.xlsx › Supplementary_Table_1
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
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
Baker RA et al.
American Journal of Medical Genetics. Part A, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
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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