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Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

✍ Scribed by C. Philippe; L. Villard; N. De Roux; M. Raynaud; J.P. Bonnefond; L. Pasquier; G. Lesca; J. Mancini; P. Jonveaux; A. Moncla; J. Chelly; T. Bienvenu

Book ID
116432792
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
153 KB
Volume
49
Category
Article
ISSN
1769-7212

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Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le