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

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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Bibliographic Details
Main Authors: Darine Villela, Lilian Kimura, David Schlesinger, Amanda Gonçalves, Peter L. Pearson, Claudia K. Suemoto, Carlos Pasqualucci, Ana Cristina Krepischi, Lea T. Grinbergand, Carla Rosenberg
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2013-01-01
Series:Genetics and Molecular Biology
Subjects:
Argyrophilic grain disease
copy number variations
CNVs
array-CGH
CTNS
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400006&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400006&lng=en&tlng=en

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