লোডিং...
A rare mutation of CACNA1C in a patient with Bipolar disorder, and decreased gene expression associated with a Bipolar-associated common SNP of CACNA1C in brain
Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delayed inactivation of Cav1.2voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells. The major clinical feature of this syndrom...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , , , , , , |
|---|---|
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
2013
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4151967/ https://ncbi.nlm.nih.gov/pubmed/23979604 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mp.2013.107 |
| ট্যাগগুলো: |
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