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Thiselton, Dawn L, Christiane
Alexander, Alex Morris, Simon Brooks, Thomas Rosenberg, Hans Eiberg, Birgit Kjer, Poul Kjer, Shomi S Bhattacharya, and Marcela Votruba. 2001. "A Frameshift Mutation in Exon28 of the OPA1 Gene Explains the High Prevalence of Dominant Optic Atrophy in the Danish
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Kjer, P. (1959). "Infantile optic atrophy with dominant mode of inheritance; A clinical and genetic study of 19 Danish families". .
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along with a dominant inheritance mode. In 1959, the condition was named
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who studied a condition in nineteen families that was characterized by
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60:Population: Evidence for a Founder Effect".
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82:Ehlers, N. (2002).
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