20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Intellectual disability (ID) is characterized by an extraordinary genetic heterogeneity, with >250 genes that have been implicated in monogenic forms of ID. Because this complexity precluded systematic testing for mutations and because clinical features are often non-specific, for some of these g...

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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Piton, Amélie, Poquet, Hélène, Redin, Claire, Masurel, Alice, Lauer, Julia, Muller, Jean, Thevenon, Julien, Herenger, Yvan, Chancenotte, Sophie, Bonnet, Marlène, Pinoit, Jean-Michel, Huet, Frédéric, Thauvin-Robinet, Christel, Jaeger, Anne-Sophie, Le Gras, Stéphanie, Jost, Bernard, Gérard, Bénédicte, Peoc'h, Katell, Launay, Jean-Marie, Faivre, Laurence, Mandel, Jean-Louis
التنسيق: Artigo
اللغة:Inglês
منشور في: Nature Publishing Group 2014
الموضوعات:
Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC4023218/
https://ncbi.nlm.nih.gov/pubmed/24169519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.243
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