Article
Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma.
Human mutation - 1 Jan 1994
Kato M V, Ishizaki K, Toguchida J, Kaneko A, Takayama J, Tanooka H, Kato T, Shimizu T, Sasaki M S
Abstract excerpt
Two intragenic deletions (exon 18-19 and exon 24) and two point mutations (one missense mutation in exon 21 and one mutation at splice-donor site for exon 13) were detected in the retinoblastoma gene in somatic and tumor cells of patients with hereditary retinoblastoma. Three mutations were located in a domain essential for binding to oncoproteins encoded by DNA tumor viruses (Hu et al., 1990; Huang et al.,...
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