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...

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Detalles Bibliográficos
Autores principales: Sharaf-Eldin, Wessam E., Issa, Mahmoud Y., Zaki, Maha S., Kilany, Ayman, Fayez, Alaaeldin G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Research
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

Internet

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

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