Epimutations in Prader-Willi and angelman syndromes
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders that are caused by the loss of function of imprinted genes in 15q11-q13. In a small group of patients, the disease is due to aberrant imprinting and gene silencing. Here, we describe the molecular analysis of 51 patien...
محفوظ في:
| المؤلف الرئيسي: | El Maarri, Osman (author) |
|---|---|
| مؤلفون آخرون: | Buiting, Karin (author), Grob, Stephanie (author), Lich, Stephanie (author), Gillessen-Kaesbach, Gabriele (author), Horsthemke, Bernhard (author) |
| التنسيق: | article |
| منشور في: |
2003
|
| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/6169 https://doi.org/10.1086/367926 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.sciencedirect.com/science/article/pii/S0002929707605734 |
| الوسوم: |
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