๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech

โœ Scribed by Yushiro Yamashita; Ikuko Kondo; Takayuki Fukuda; Riyo Morishima; Akira Kusaga; Rikako Iwanaga; Toyojiro Matsuishi


Book ID
117545589
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
64 KB
Volume
23
Category
Article
ISSN
0387-7604

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Mutations and polymorphisms in the human
โœ Gabriel Miltenberger-Miltenyi; Franco Laccone ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 188 KB

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