Article
[The peculiarities of polymorphism of XPD and XRCC1 repair genes in cells of Down and Ehlers-Danlo syndrome patients characterized by increased radiosensitivity].
Radiatsionnaia biologiia, radioecologiia - 1 Jan 2000
Shagirova Zh M, Kurbatova L A, Shulenina L V, Semiachkina A N, Mikhaĭlov V F, Zasukhina G D
Abstract excerpt
Codon 312 and 751 polymorphisms ofXPD gene and codon 399 polymorphism of XRCC1 gene of peripheral blood lymphocytes in patients with Down syndrome (DS) (46 individuals), Ehlers-Danlo syndrome (EDS) (47 individuals) and in a group of healthy donors (control) (40 individuals) have been studied. Frequency of XPD genotype (G312G) coding for the most effectively functioning form of XPD protein was lower in patients...
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