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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...
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| Hoofdauteurs: | , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group
2009
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| Onderwerpen: | |
| Online toegang: | 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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