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References

These sources were used to develop the Genetics Home Reference gene summary on the SURF1 gene.

Entrez Gene
Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008 Oct;39(4):223-35. doi: 10.1016/j.pediatrneurol.2008.07.013. Review. PubMed citation
OMIM: SURFEIT 1
Pecina P, Capková M, Chowdhury SK, Drahota Z, Dubot A, Vojtísková A, Hansíková H, Houst'ková H, Zeman J, Godinot C, Houstek J. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63. PubMed citation
Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat. 2001 May;17(5):374-81. PubMed citation
Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet. 1999 Dec;8(13):2541-9. PubMed citation

Reviewed: October 2012

Published: May 13, 2013