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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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| Pubblicato in: | Eur J Hum Genet |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer International Publishing
2020
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| Soggetti: | |
| Accesso online: | 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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