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Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients
BACKGROUND: Methyl CpG binding protein 2 (MeCP2) is essential for the normal function of mature neurons. Mutations in the MECP2 gene are the main cause of Rett syndrome (RTT). Gene mutations have been identified throughout the gene and the mutation effect is mainly correlated with its type and locat...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8917248/ https://www.ncbi.nlm.nih.gov/pubmed/35275316 http://dx.doi.org/10.1186/s43141-022-00305-8 |