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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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: Inlora, Jingga, Sailani, M. Reza, Khodadadi, Hamidreza, Teymurinezhad, Ahmad, Takahashi, Shinichi, Bernstein, Jonathan A., Garshasbi, Masoud, Snyder, Michael P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2017
Konular:
Research Report
Online Erişim: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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