Browsing FCM - Congresos 2013 by Subject "Hexb gene"

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    • Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina 

      Mugnaini, Julia; Dodelson de Kremer, Raquel; Oller Ramírez, Ana María; Azar, Nydia Beatriz; Dardis, Andrea; Becerra, Adriana; Zampieri, S.; Guelbert, Norberto (Sociedad Americana de errores innatos del metabolismo y pesquisa neonatal, 2013)
      Sandhoff Disease (SD) is a lysosomal storage disorder caused by mutations in the HEXB gene. A high incidence of SD has been described in an Argentine region called ‘‘Valle de Traslasierra.’’ Mutations c.445þ1G>A and ...