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References

These sources were used to develop the Genetics Home Reference gene summary on the OPA3 gene.

Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. Epub 2001 Oct 19. PubMed citation
Entrez Gene
Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Mol Genet Metab. 2002 Jul;76(3):201-6. PubMed citation
Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthièry Y, Lenaers G, Bonneau D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 Sep;41(9):e110. PubMed citation
Votruba M. Molecular genetic basis of primary inherited optic neuropathies. Eye (Lond). 2004 Nov;18(11):1126-32. Review. PubMed citation

Reviewed: November 2007

Published: May 20, 2013