Article
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
Gene - 15 May 2012
Zampieri Stefania, Montalvo Annalisa, Blanco Mariana, Zanin Irene, Amartino Hernan, Vlahovicek Kristian, Szlago Marina, Schenone Andrea, Pittis Gabriela, Bembi Bruno, Dardis Andrea
Abstract excerpt
Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the deficient activity of hexosaminidase A due to mutations in the HEXA gene. Up to date there is no information regarding the molecular genetics of TSD in Argentinean patients. In the present study we have studied 17 Argentinean families affected by TSD, including 20 patients with the acute infantile form and 3 with the sub-acute form....
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