Published in
BMJ Publishing Group, Journal of Medical Genetics, 12(51), p. 834-838
DOI: 10.1136/jmedgenet-2014-102532
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Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy
Journal article published in 2014 by
Metodi Dimitrov Metodiev,
Sylvie Gerber,
Laurence Hubert,
Agnès Delahodde,
Dominique Chretien,
X. Gerard,
Xavier Gérard,
Patrizia Amati-Bonneau,
Marie-Christine Giacomotto,
Nathalie Boddaert,
Anna Kaminska,
Isabelle Desguerre,
Jeanne Amiel 
,
Marlène Rio,
Josseline Kaplan
and other authors.
,
Marlène Rio,
Josseline Kaplan
and other authors.
This paper is available in a repository.
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