Abstract

MARSAN SUAREZ, Vianed; DEL VALLE PEREZ, Lázaro O; SANCHEZ SEGURA, Miriam  and  MACIAS ABRAHAM, Consuelo. Diagnostic, mollecular and therapeutic aspects of ataxia telangiectasia. Rev Cubana Hematol Inmunol Hemoter [online]. 2003, vol.19, n.1, pp. 0-0. ISSN 1561-2996.

The ataxia telangiectasia is a multisystemic disease caused by mutations in the mutated gene of the ataxia telangectasia (MAT) , located in the locus 11 q22-23 that brings about deficiencies in the expression of the protein of the mutated ataxia telangectasia (MAT). The diagnostic criteria, the diseases with which the differential diagnosis should be made, the molecular mechanisms involved in the physiopathogeny of the disease and, finally, the therapies used and those under experimental stage, are updated

Keywords : ATAXIA TELANGIECTASIA [diagnosis]; ATAXIA TELAN-GIECTASIA [drug therapy]; ATAXIA TELANGIECTASIA [genetics]; OXIDATIVE STRESS; MOLECULAR BIOLOGY.