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Using iPS cell-derived neurons to uncover cellular phenotypes associated with Timothy Syndrome
Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific genes control the development of the human brain. Timothy syndrome is caused by a missense mutation in the L-type calcium channel Ca(v)1.2 that is associated with developm...
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| 主要な著者: | , , , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3517299/ https://ncbi.nlm.nih.gov/pubmed/22120178 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nm.2576 |
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