De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Document Type
Journal Article
Publication Date
11-1-2018
Journal
European journal of human genetics : EJHG
Volume
26
Issue
11
Inclusive Pages
1623-1634
DOI
10.1038/s41431-018-0206-3
Keywords
Calcium; Child; Female; HEK293 Cells; Humans; Inositol 1,4,5-Trisphosphate; Inositol 1,4,5-Trisphosphate Receptors; Loss of Function Mutation; Mutation, Missense; Spinocerebellar Degenerations
APA Citation
Synofzik, M., Helbig, K., Harmuth, F., Deconinck, T., Tanpaiboon, P., Sun, B., Guo, W., Wang, R., Palmaer, E., Tang, S., Schaefer, G., Gburek-Augustat, J., Züchner, S., Krägeloh-Mann, I., Baets, J., de Jonghe, P., Bauer, P., Chen, S., Schöls, L., & Schüle, R. (2018). De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.. European journal of human genetics : EJHG, 26 (11). http://dx.doi.org/10.1038/s41431-018-0206-3
Peer Reviewed
1