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Neuronal instability: implications for Rett's syndrome

✍ Scribed by Efrain C Azmitia

Book ID
117545579
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
427 KB
Volume
23
Category
Article
ISSN
0387-7604

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Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome
✍ E. Schollen; E. Smeets; E. Deflem; J.P. Fryns; G. Matthijs πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 162 KB πŸ‘ 1 views

Since 1999, many laboratories have confirmed that mutations in the MECP2 gene are the primary cause of Rett syndrome (RTT or RS) and identified mutations in 70 to 90% of the sporadically affected girls. Most of the screenings are PCR-based and restricted to the coding part of the gene and therefore