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PPFIA4 mutation: A second hit in POLG related disease?
Epilepsy in POLG related disease usually involves biallelic recessive mutations causing chronic neuronal loss and neuronal death. However, monoallelic POLG mutations have been reported in patients with neurological features such as seizures [1]. In these patients a second allele/gene was anticipated...
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| Publicado no: | Epilepsy Behav Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8164014/ https://ncbi.nlm.nih.gov/pubmed/34095804 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebr.2021.100455 |
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