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MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome

BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. Its causative gene is the X‐linked MECP2 encoding the methyl‐CpG‐binding protein 2 (MeCP2). The gene comprises four exons and generates two isoforms, namely MECP2_e1 and MECP2_e2. However, it remains u...

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Detalles Bibliográficos
Autores principales:	Takeguchi, Ryo, Takahashi, Satoru, Kuroda, Mami, Tanaka, Ryosuke, Suzuki, Nao, Tomonoh, Yuko, Ihara, Yukiko, Sugiyama, Nobuyoshi, Itoh, Masayuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005616/ https://www.ncbi.nlm.nih.gov/pubmed/31816669 http://dx.doi.org/10.1002/mgg3.1088

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