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A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene

✍ Scribed by Nourhene Fendri-Kriaa; Ines Hsairi; Chamseddine Kifagi; Emna Ellouze; Emna Mkaouar-Rebai; Chahnez Triki; Faiza Fakhfakh

Book ID: 116301765
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 604 KB
Volume: 409
Category: Article
ISSN: 0006-291X
DOI: 10.1016/j.bbrc.2011.04.140

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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