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Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia

Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-ex...

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Detalles Bibliográficos
Autores principales:	Inlora, Jingga, Sailani, M. Reza, Khodadadi, Hamidreza, Teymurinezhad, Ahmad, Takahashi, Shinichi, Bernstein, Jonathan A., Garshasbi, Masoud, Snyder, Michael P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2017
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701303/ https://www.ncbi.nlm.nih.gov/pubmed/28652255 http://dx.doi.org/10.1101/mcs.a002014

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