Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

BACKGROUND: The inositol 1,4,5-triphosphate (IP3) receptor type 1 gene (ITPR1) encodes the IP3 receptor type 1 (IP3R1), which modulates intracellular calcium homeostasis and signaling. Mutations in ITPR1 have been implicated in inherited cerebellar ataxias. The aim of this study was to investigate t...

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Udgivet i:PLoS One
Main Authors: Hsiao, Cheng-Tsung, Liu, Yo-Tsen, Liao, Yi-Chu, Hsu, Ting-Yi, Lee, Yi-Chung, Soong, Bing-Wen
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5706750/
https://ncbi.nlm.nih.gov/pubmed/29186133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0187503
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