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- W2911771486 abstract "Abstract The Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic diseases that are caused by the loss of function of imprinted genes on the proximal long arm of human chromosome 15. The identification of small deletions in a subgroup of patients in whom the loss of gene function is due to an incorrect imprint on the paternal or the maternal chromosome 15, respectively, has lead to the definition of a bipartite imprinting center that regulates in cis imprint resetting and imprint maintenance in the whole domain. These findings have been confirmed and extended in knockout and transgenic mice. In the majority of patients with an imprinting defect, the incorrect imprint has arisen without a DNA sequence change, probably as the result of stochastic errors of the imprinting process. It is possible that the error rate is affected by genetic and exogenous factors." @default.
- W2911771486 created "2019-02-21" @default.
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- W2911771486 date "2005-09-26" @default.
- W2911771486 modified "2023-10-18" @default.
- W2911771486 title "Imprinting in <scp>P</scp> rader– <scp>W</scp> illi and <scp>A</scp> ngelman syndromes" @default.
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- W2911771486 doi "https://doi.org/10.1002/047001153x.g103214" @default.
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