Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly

The Prader–Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The frequencies of different subtypes in PWS are usually given in literature as 70% deletion, 25–30% maternal uniparental disomy (mU...

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主要な著者: Sinnema, Margje, van Roozendaal, Kees E P, Maaskant, Marian A, Smeets, Hubert J M, Engelen, John J M, Jonker-Houben, Nieke, Schrander-Stumpel, Constance T R M, Curfs, Leopold M G
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2010
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987424/
https://ncbi.nlm.nih.gov/pubmed/20461108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.67
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