Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region
✍ Scribed by Knoll, Joan H.M.; Cheng, Sou-De; Lalande, Marc
- Book ID
- 109914908
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 748 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1061-4036
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📜 SIMILAR VOLUMES
The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of
Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this l