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Article

A mouse model of Angelman syndrome imprinting defects

25 Sept 2018

Abstract excerpt

Angelman syndrome, Prader-Will syndrome and Dup15q syndrome map to a cluster of imprinted genes located at 15q11-q13. Imprinting at this domain is regulated by an imprinting control region consisting of two distinct elements, the Angelman syndrome imprinting center (AS-IC) and the Prader-Willi syndrome imprinting center (PWS-IC). Individuals inheriting deletions of the AS-IC exhibit reduced expression of the...

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Identifiers

PMID: 30260400
DOI: 10.1093/hmg/ddy345

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