Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-0595-y
Abstract: 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… read more here.
Keywords: angelman syndrome; haplotype; deletion; imprinting centre ... See more keywords