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The impact ofMECP2mutations in the expression patterns of Rett syndrome patients

✍ Scribed by Esteban Ballestar; Santiago Ropero; Miguel Alaminos; Judith Armstrong; Fernando Setien; Ruben Agrelo; Mario F. Fraga; Michel Herranz; Sonia Avila; Mercedes Pineda; Eugenia Monros; Manel Esteller


Publisher
Springer
Year
2004
Tongue
English
Weight
653 KB
Volume
116
Category
Article
ISSN
0340-6717

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Although MECP2 was initially identified as the causative gene in classic Rett syndrome (RTT), the gene has now been implicated in several phenotypes that extend well beyond the clinically defined disorder. MECP2 mutations have been found in people with various disorders, including neonatal onset enc

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Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. M6b, a member of the proteolipid protein gene family, was mapped to Xp22.2 within one of the RTT candidate regions. In this article we describe the structure of the M6b gene, refine the physical mapping of M6b bet