Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation
| Autor: | Desai, Karan M., Kumar, Piyush, Ravat, Parthvi S., Ravat, Sangeeta H., Jain, Neeraj, Agrawal, Shruti, Ansari, Rahil |
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| Zdroj: | In Epilepsy & Behavior Reports 2021 15 |
| Databáze: | ScienceDirect |
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