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Disruption of the Bipartite Imprinting Center in a Family with Angelman Syndrome

Imprinting in 15q11-q13 is controlled by a bipartite imprinting center (IC), which maps to the SNURF-SNRPN locus. Deletions of the exon 1 region impair the establishment or maintenance of the paternal imprint and can cause Prader-Willi syndrome (PWS). Deletions of a region 35 kb upstream of exon 1 i...

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Autori principali: Buiting, Karin, Barnicoat, Angela, Lich, Christina, Pembrey, Marcus, Malcolm, Sue, Horsthemke, Bernhard
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2001
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226110/
https://ncbi.nlm.nih.gov/pubmed/11283796
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