Browsing by Subject "intragenic haplotype"

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    • Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil 

      Gheno, T. C.; Furtado, G. V.; Saute, J. A. M.; Donis, K. C.; Fontanari, A. M. V.; Emmel, V. E.; Pedroso, J. L. [UNIFESP]; Barsottini, O. [UNIFESP]; Godeiro-Junior, C.; van der Linden, H.; Pereira, E. Ternes; Cintra, V. P.; Marques, W., Jr.; de Castilhos, R. M.; Alonso, I.; Sequeiros, J.; Cornejo-Olivas, M.; Mazzetti, P.; Leotti, V. B.; Jardim, L. B.; Saraiva-Pereira, M. L. (Wiley, 2017)
      Background and purpose: Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic ...