๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation

โœ Scribed by S. Corbani; E. Chouery; J. Fayyad; A. Fawaz; O. El Tourjuman; C. Badens; C. Lacoste; V. Delague; A. Megarbane


Book ID
114741533
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
195 KB
Volume
56
Category
Article
ISSN
0964-2633

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Novel de novo nonsense mutation of MECP2
โœ Soo-Jeong Kim; Edwin H. Cook Jr. ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 35 KB ๐Ÿ‘ 3 views

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