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

Abstract 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 r...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Ryo Takeguchi, Satoru Takahashi, Mami Kuroda, Ryosuke Tanaka, Nao Suzuki, Yuko Tomonoh, Yukiko Ihara, Nobuyoshi Sugiyama, Masayuki Itoh
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2020-02-01
Цуврал:	Molecular Genetics & Genomic Medicine
Нөхцлүүд:	male with Rett syndrome MeCP2 isoform MeCP2_e1 MeCP2_e2 somatic mosaicism
Онлайн хандалт:	https://doi.org/10.1002/mgg3.1088
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!