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An epileptic disease with genomic imprinting disorder: Angelman syndrome

✍ Scribed by Shinji Saitoh


Book ID
116774959
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
72 KB
Volume
58
Category
Article
ISSN
0168-0102

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Clinical spectrum and molecular diagnosi
✍ Saitoh, Shinji; Buiting, Karin; Cassidy, Suzanne B.; Conroy, Jeffrey M.; Driscol πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 305 KB πŸ‘ 2 views

Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13