Germline mosaicism of a novel UBE3A mutation in Angelman syndrome
โ Scribed by Kana Hosoki; Kyoko Takano; Akira Sudo; Soichiro Tanaka; Shinji Saitoh
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 121 KB
- Volume
- 138A
- Category
- Article
- ISSN
- 1552-4825
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๐ SIMILAR VOLUMES
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 (โผ โผ70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation patte
## 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