Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

Prader Willi and Angelman syndromes are clinically distinct genetic disorders both mapping to chromosome region 15q11-q13, which are caused by a loss of function of paternally or maternally inherited genes in the region, respectively. With clinical diagnosis often being difficult, particularly in in...

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Detalhes bibliográficos
Main Authors: Boyle, Jennifer, Hawkins, Malcolm, Barton, David E, Meaney, Karen, Guitart, Miriam, O'Grady, Anna, Tobi, Simon, Ramsden, Simon C, Elles, Rob, Gray, Elaine, Metcalfe, Paul, Hawkins, J Ross
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3172937/
https://ncbi.nlm.nih.gov/pubmed/21587322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.59
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