Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients

Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients

Abstract 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 a...

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Bibliographic Details
Main Authors: Wessam E. Sharaf-Eldin, Mahmoud Y. Issa, Maha S. Zaki, Ayman Kilany, Alaaeldin G. Fayez
Format: Article
Language:English
Published: Elsevier 2022-03-01
Series:Journal of Genetic Engineering and Biotechnology
Subjects:
MECP2
Rett syndrome
Missense mutation
In silico analysis
Online Access:https://doi.org/10.1186/s43141-022-00305-8

Internet

https://doi.org/10.1186/s43141-022-00305-8

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