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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Bibliographic Details
Published in:Cold Spring Harb Mol Case Stud
Main Authors: Inlora, Jingga, Sailani, M. Reza, Khodadadi, Hamidreza, Teymurinezhad, Ahmad, Takahashi, Shinichi, Bernstein, Jonathan A., Garshasbi, Masoud, Snyder, Michael P.
Format: Artigo
Language:Inglês
Published: Cold Spring Harbor Laboratory Press 2017
Subjects:
Research Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701303/
https://ncbi.nlm.nih.gov/pubmed/28652255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002014
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