Article
[Spectrum and frequencies of RB1 gene structural defects in retinoblastoma].
Molekuliarnaia biologiia - 1 Jan 2000
Babenko O V, Saakian S V, Brovkina A F, Kozlova V M, Strel'nikov V V, Zaletaev D V, Nemtsova M V
Abstract excerpt
The spectrum and frequencies of RB1 structural defects were studied in tumors and peripheral blood lymphocytes of patients with various forms of retinoblastoma. Single strand conformation polymorphism (SSCP) and heteroduplex (HA) analyses, along with direct sequencing, revealed 47 mutations, including 24 new ones. Of these, 42.5% were nonsense mutations, 15% were missense mutations, 15% affected splicing sites,...
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