An atypical case of hypomethylation at multiple imprinted loci

Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been reported...

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Bibliografske podrobnosti
Main Authors: Baple, Emma L, Poole, Rebecca L, Mansour, Sahar, Willoughby, Catherine, Temple, I Karen, Docherty, Louise E, Taylor, Rohan, Mackay, Deborah J G
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2011
Teme:
Short Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3061991/
https://ncbi.nlm.nih.gov/pubmed/21206512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.218
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