Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15

Angelman syndrome (AS) is a rare neurogenetic imprinting disorder caused by the loss of function of UBE3A. In ~3–5% of AS patients, the disease is due to an imprinting defect (ID). These patients lack DNA methylation of the maternal SNRPN promotor so that a large SNRPN sense/UBE3A antisense transcri...

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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Beygo, Jasmin, Grosser, Christian, Kaya, Sabine, Mertel, Claudia, Buiting, Karin, Horsthemke, Bernhard
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer International Publishing 2020
Konular:
Brief Communication
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7253442/
https://ncbi.nlm.nih.gov/pubmed/32152487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0595-y
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