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 locat...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- DNA
- DNA Mutational Analysis
- Exons
- Eye Neoplasms
- Fibroblasts
- Gene Expression Regulation, Neoplastic
- Genes, Retinoblastoma
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Repetitive Sequences, Nucleic Acid