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Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
N Engl J Med. 2007 Feb 22;356(8):809-19. doi: 10.1056/NEJMoa055262.
N Engl J Med. 2007.
PMID: 17314340
Free article.
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.
Fernandez-Vizarra E, et al.
Hum Mol Genet. 2007 May 15;16(10):1241-52. doi: 10.1093/hmg/ddm072. Epub 2007 Apr 2.
Hum Mol Genet. 2007.
PMID: 17403714
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