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Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms

✍ Scribed by Takayuki Fukuda; Yushiro Yamashita; Shinichiro Nagamitsu; Kenichi Miyamoto; Jing-Ji Jin; Iori Ohmori; Yoko Ohtsuka; Katsuko Kuwajima; Shoichi Endo; Tsuyako Iwai; Hidehisa Yamagata; Yasuharu Tabara; Tetsuro Miki; Toyojiro Matsuishi; Ikuko Kondo

Book ID: 113498157
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 154 KB
Volume: 27
Category: Article
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2004.06.003

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Rett syndrome (RTT or RS) is a neurodevelopmental disorder and one of the most frequent genetic diseases in girls. Mutations of the MECP2 gene have been found in a variety of different RTT phenotypes. The MECP2 gene (Xq28) has been described in 1992. Up to now, 218 different mutations have been repo

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