A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
β Scribed by L. Abaied; M. Trabelsi; M. Chaabouni; M. Kharrat; L. Kraoua; R. M'rad; N. Tebib; F. Maazoul; H. Chaabouni
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 161 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract Angelman syndrome (AS) is a genetic disorder caused by a deficiency of __UBE3A__ imprinted gene expression from the maternal chromosome 15. In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the __UBE3A__ gene. In two large Spanish series of clinically str
Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb deletions (βΌ βΌ70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation patte