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Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
OBJECTIVE: CDKL5-related disorders (CDD) is an epileptic encephalopathy resulted of gene mutations of CDKL5. This study aimed to explore the development process of CDD and to expand its mutation spectrum. METHODS: Clinic datawas collected about three infantile epileptic encephalopathy cases diagnose...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048148/ https://www.ncbi.nlm.nih.gov/pubmed/32111237 http://dx.doi.org/10.1186/s13052-020-0775-y |