Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. (Q48472700)
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scientific article published on 28 October 2014
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English | Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. |
scientific article published on 28 October 2014 |
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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. (English)
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Arnold Munnich
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Agnès Rötig
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Dominique Chretien
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Isabelle Desguerre
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Claude Besmond
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Agnès Delahodde
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Patrizia Amati-Bonneau
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Laurence Hubert
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Marie-Christine Giacomotto
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Marlène Rio
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28 October 2014
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51
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834-838
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