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| Villela,Darine; Kimura,Lilian; Schlesinger,David; Gonçalves,Amanda; Pearson,Peter L.; Suemoto,Claudia K.; Pasqualucci,Carlos; Krepischi,Ana Cristina; Grinbergand,Lea T.; Rosenberg,Carla. |
| 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. Rare CNVs were identified in six patients (21%), in particular a 40 kb deletion at 17p13.2 encompassing the CTNS gene. Homozygote mutations in CTNS are known to cause cystinosis, a disorder characterized by the intralysosomal accumulation of cystine in all tissues. We present the first CNV results in individuals presenting AGD and a possible candidate gene implicated in the disorder. |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Argyrophilic grain disease; Copy number variations; CNVs; Array-CGH; CTNS. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400006 |
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