Article
Three new BLM gene mutations associated with Bloom syndrome.
Genetic testing - 1 Jun 2008
Amor-Guéret Mounira, Dubois-d'Enghien Catherine, Laugé Anthony, Onclercq-Delic Rosine, Barakat Abdelhamid, Chadli Elbekkay, Bousfiha Ahmed Aziz, Benjelloun Meriem, Flori Elisabeth, Doray Bérénice, Laugel Vincent, Lourenço Maria Teresa, Gonçalves Rui, Sousa Silvia, Couturier Jérôme, Stoppa-Lyonnet Dominique
Abstract excerpt
Bloom's syndrome (BS) is a rare autosomal recessive disease predisposing patients to all types of cancers affecting the general population. BS cells display a high level of genetic instability, including a 10-fold increase in the rate of sister chromatid exchanges, currently the only objective criterion for BS diagnosis. We have developed a method for screening the BLM gene for mutations based on direct genomic...
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