Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD...

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Autors principals: Villela, Darine, Kimura, Lilian, Schlesinger, David, Gonçalves, Amanda, Pearson, Peter L., Suemoto, Claudia K., Pasqualucci, Carlos, Krepischi, Ana Cristina, Grinberg, Lea T., Rosenberg, Carla
Format: Artigo
Idioma:Inglês
Publicat: Sociedade Brasileira de Genética 2013
Matèries:
Human and Medical Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873179/
https://ncbi.nlm.nih.gov/pubmed/24385851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572013000400006
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