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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Bibliografische gegevens
Gepubliceerd in:Cold Spring Harb Mol Case Stud
Hoofdauteurs: Inlora, Jingga, Sailani, M. Reza, Khodadadi, Hamidreza, Teymurinezhad, Ahmad, Takahashi, Shinichi, Bernstein, Jonathan A., Garshasbi, Masoud, Snyder, Michael P.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Cold Spring Harbor Laboratory Press 2017
Onderwerpen:
Research Report
Online toegang: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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