De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA). Three hundred thirty one patients from a European EOA target cohort (n = 120), US-American EO...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Synofzik, Matthis, Helbig, Katherine L., Harmuth, Florian, Deconinck, Tine, Tanpaiboon, Pranoot, Sun, Bo, Guo, Wenting, Wang, Ruiwu, Palmaer, Erika, Tang, Sha, Schaefer, G. Bradley, Gburek-Augustat, Janina, Züchner, Stephan, Krägeloh-Mann, Ingeborg, Baets, Jonathan, de Jonghe, Peter, Bauer, Peter, Chen, S. R. Wayne, Schöls, Ludger, Schüle, Rebecca
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6189112/
https://ncbi.nlm.nih.gov/pubmed/29925855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0206-3
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