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Gene Therapy

New Gene Therapy study findings recently were reported by researchers at University of Rome

Published in Gene Therapy Weekly, September 20th, 2007

According to recent research from Rome, Italy, "Genetic heterogeneity in Nijmegen breakage syndrome (NBS) is highlighted by patients showing clinical and cellular features of NBS but with no mutations in NBS1 and normal levels of nibrin. NBS is an autosomal recessive disorder, whose clinical cellular signs include growth and developmental defects, dysmorphic facies, immunodeficiency, cancer predisposition, chromosomal instability and radiosensitivity."

"NBS is caused by mutations in the NBS1 gene, whose product is part of the MRE11/RAD50/ NBS1 complex involved in the DNA double-strand break (DSB) response pathway. Since the identification of the NBS1 gene, patients with...

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