A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

The Prader–Willi syndrome (PWS) is caused by a 5–6 Mbp de novo deletion on the paternal chromosome 15, maternal uniparental disomy 15 or an imprinting defect. All three lesions lead to the lack of expression of imprinted genes that are active on the paternal chromosome only: MKRN3, MAGEL2, NDN, C15o...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kanber, Deniz, Giltay, Jacques, Wieczorek, Dagmar, Zogel, Corinna, Hochstenbach, Ron, Caliebe, Almuth, Kuechler, Alma, Horsthemke, Bernhard, Buiting, Karin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2009
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986273/
https://ncbi.nlm.nih.gov/pubmed/19066619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.232
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