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Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders that are caused by the loss of function of imprinted genes in 15q11-q13. In a small group of patients, the disease is due to aberrant imprinting and gene silencing. Here, we describe the molecular analysis of 51 patien...

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Detalhes bibliográficos
Main Authors: Buiting, Karin, Groß, Stephanie, Lich, Christina, Gillessen-Kaesbach, Gabriele, El-Maarri, Osman, Horsthemke, Bernhard
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180233/
https://ncbi.nlm.nih.gov/pubmed/12545427
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