Is the BCS1L variant c.232A>G truly responsible for a GRACILE-like condition?
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1. Serdaroğlu E, Takcı Ş, Kotarsky H, et al. A Turkish BCS1L mutation causes GRACILE-like disorder. Turk J Pediatr 2016; 58: 658-661.2. Kotarsky H, Karikoski R, Mörgelin M, et al. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion 2010; 10: 497-509.
3. Tegelberg S, Tomašić N, Kallijärvi J, et al. Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. Orphanet J Rare Dis 2017; 12: 73.
4. Fernandez-Vizarra E, Bugiani M, Goffrini P, et al. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 2007; 16: 1241-1252.
5. Tuppen HA, Fehmi J, Czermin B, et al. Longterm survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol Genet Metab 2010; 100: 345-348.
- ISSN: 0041-4301
- Yayın Aralığı: 6
- Başlangıç: 1958
- Yayıncı: Hacettepe Üniversitesi Çocuk Sağlığı Enstitüsü Müdürlüğü
Hüsniye ALTAN, Işıl İrem BUDAKOĞLU, Figen ŞAHİN DAĞLI, Resmiye ORAL
Is the BCS1L variant c.232A>G truly responsible for a GRACILE-like condition?
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