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Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

✍ Scribed by Karin Buiting; Stephanie Groß; Christina Lich; Gabriele Gillessen-Kaesbach; Osman El-Maarri; Bernhard Horsthemke


Book ID
117854153
Publisher
American Society of Human Genetics
Year
2003
Tongue
English
Weight
200 KB
Volume
72
Category
Article
ISSN
0002-9297

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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