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Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis

✍ Scribed by Liron Abuhatzira; Kirill Makedonski; Yael Petel Galil; Eva Gak; Bruria Ben Zeev; Aharon Razin; Ruth Shemer


Book ID
106134140
Publisher
Springer
Year
2005
Tongue
English
Weight
395 KB
Volume
118
Category
Article
ISSN
0340-6717

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MECP2 Mutations in Israel: Implications
✍ Yuval Yaron; Bruria Ben Zeev; Ruth Shomrat; Dani Bercovich; Tova Naiman; Avi Orr πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 92 KB

This report describes molecular analysis of the MECP2 gene in 37 Israeli patients suspected of having Rett syndrome (RTT). The patients were from various Jewish ethnic groups and from Arabic origin. Of the 17 patients with classical RTT, bi-directional sequencing of the coding exons revealed MECP2 m