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Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi and Massimo Zeviani*

Orphanet Journal of Rare Diseases 2013, 8:66  doi:10.1186/1750-1172-8-66

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