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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Bibliographic Details
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
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2011
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Online Access: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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