๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1

โœ Scribed by Y Chunshu; K Endoh; M Soutome; R Kawamura; T Kubota


Book ID
110888288
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
98 KB
Volume
70
Category
Article
ISSN
0009-9163

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