Lataa...
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...
Tallennettuna:
| Julkaisussa: | Eur J Hum Genet |
|---|---|
| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Springer International Publishing
2020
|
| Aiheet: | |
| Linkit: | 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 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|