𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Rett Syndrome and MeCP2: Linking Epigenetics and Neuronal Function

✍ Scribed by Mona D. Shahbazian; Huda Y. Zoghbi

Book ID
117854095
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
136 KB
Volume
71
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

MECP2 deletions and genotype–phenotype c
MECP2 deletions and genotype–phenotype correlation in Rett syndrome
✍ Elisa Scala; Ilaria Longo; Federica Ottimo; Caterina Speciale; Katia Sampieri; E πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 184 KB πŸ‘ 2 views

## Abstract Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. __MECP2__ point mutations in exons 2–4 account for about 80% of classic Rett cases and for a lower percentage of variant patients. We investigated the gen

p.R270X MECP2 mutation and mortality in
p.R270X MECP2 mutation and mortality in Rett syndrome
✍ Jian, Le; Archer, Hayley L; Ravine, David; Kerr, Alison; de Klerk, Nick; Christo πŸ“‚ Article πŸ“… 2005 πŸ› Nature Publishing Group 🌐 English βš– 83 KB