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 spectrum of BCS1L Mitopathies and their underlying structural relationships.
Baker RA et al.
American Journal of Medical Genetics. Part A, 2019
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
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
Siddiqi S et al.
Journal of Human Genetics, 2013
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