Art

J-GLOBAL ID：201302119826399440   Reference number：13A0101246

The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome

Author (7)： OKI J ,  MIYAMOTO A ,  YAMAMOTO M ,  AMAMIYA S ,  OGAWA A ,  MAKITA Y ,  ISHII T
Material： BRAIN & DEVELOPMENT
Page： S161-S164  Publication year： 2001 
JST Material Number： I20011051  ISSN： 0387-7604  Document type： Article
Country of issue： Other (ZZZ)  Language： ENGLISH (EN)

Reference (8)：

• AMIR, RE. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999, 23, 185-188
• CHEADLE, JP. Long-read sequence analysis of the MIECP2 gene in Rett syndrome patients : Correlation of disease severity with mutation type and location. Hum Mol Genet. 2000, 9, 1119-1129
• OGAWA, A. Japanese monozygotic twins with Rett syndrome. Brain Dev. 1997, 19, 568-570
• MIYAMOTO, A. Classical Rett syndrome in sisters : variability of clinical expression. Brain Dev. 1997, 19, 492-494
• AMIR, RE. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000, 47, 670-679