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pro vyhledávání: '"Ridthi Kartik Rekha Patel"'
Autor:
Chavely Gonzalez Ramirez, Sarah G. Salvador, Ridthi Kartik Rekha Patel, Sarah Clark, Noah W. Miller, Lucas M. James, Nicholas W. Ringelberg, Jeremy M. Simon, Jeffrey Bennett, David G. Amaral, Alain C. Burette, Benjamin D. Philpot
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
Angelman syndrome (AS) is a neurogenetic disorder caused by mutations or deletions in the maternally-inherited UBE3A allele, leading to a loss of UBE3A protein expression in neurons. The paternally-inherited UBE3A allele is epigenetically silenced in
Externí odkaz:
https://doaj.org/article/33877a6fbffd43a480e77efec52fb40f
