MECP2 mutation analysis in patients with mental retardation
✍ Scribed by Tero Ylisaukko-oja; Karola Rehnström; Raija Vanhala; Elli Kempas; Harriet von Koskull; Carola Tengström; Aki Mustonen; Katrin Õunap; Jaana Lähdetie; Irma Järvelä
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 61 KB
- Volume
- 132A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Non‐syndromic X‐linked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% of the MRX situations ascertained by recurrence in multiplex families. In Rett syn
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