Article
Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies.
International journal of cancer - 1 Mar 2006
Chrzanowska Krystyna H, Piekutowska-Abramczuk Dorota, Popowska Ewa, Gładkowska-Dura Małgorzata, Małdyk Jadwiga, Syczewska Małgorzata, Krajewska-Walasek Małgorzata, Goryluk-Kozakiewicz Bozenna, Bubała Halina, Gadomski Artur, Gaworczyk Anna, Kazanowska Bernarda, Kołtan Andrzej, Kuźmicz Marta, Luszawska-Kutrzeba Teresa, Maciejka-Kapuścińska Lucyna, Stolarska Małgorzata, Stefańska Katarzyna, Sznurkowska Katarzyna, Wakulińska Anna, Wieczorek Maria, Szczepański Tomasz, Kowalczyk Jerzy
Abstract excerpt
Nijmegen breakage syndrome (NBS) is a human autosomal recessive disease characterized by genomic instability and enhanced cancer predisposition, in particular to lymphoma and leukemia. Recently, significantly higher frequencies of heterozygous carriers of the Slavic founder NBS1 mutation, 657del5...
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