SCA2 predictive testing in Cuba: challenging concepts and protocol evolution

Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN2 gene. Cuba has the highest prevalence (6.57 cases/10(5) inhabitants) of SCA2 in the world. The existence of 753 affected individuals and 7173 relatives at risk prompted the development i...

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Bibliographic Details
Published in:J Community Genet
Main Authors: Cruz-Mariño, Tania, Vázquez-Mojena, Yaimeé, Velázquez-Pérez, Luis, González-Zaldívar, Yanetza, Aguilera-Rodríguez, Raúl, Velázquez-Santos, Miguel, Estupiñán-Rodríguez, Annelié, Laffita-Mesa, José Miguel, Almaguer-Mederos, Luis E., Paneque, Milena
Format: Artigo
Language:Inglês
Published: Springer Berlin Heidelberg 2015
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Original Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4524837/
https://ncbi.nlm.nih.gov/pubmed/25893506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-015-0226-4
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