Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic varia...

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Detalles Bibliográficos
Autores principales: Takeshita, Eri, Iida, Aritoshi, Abe-Hatano, Chihiro, Nakagawa, Eiji, Sasaki, Masayuki, Inoue, Ken, Goto, Yu-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804785/
https://www.ncbi.nlm.nih.gov/pubmed/31645986
http://dx.doi.org/10.1038/s41439-019-0078-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804785/
https://www.ncbi.nlm.nih.gov/pubmed/31645986
http://dx.doi.org/10.1038/s41439-019-0078-2

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