Title

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

Peer Reviewed

1

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