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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...
Tallennettuna:
| Julkaisussa: | PLoS One |
|---|---|
| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Public Library of Science
2017
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| Aiheet: | |
| Linkit: | 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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