Article
Independent constitutional germline mutations occurring in the RB1 gene in cousins with bilateral retinoblastoma.
Oncogene - 7 Sept 1995
Bia B, Cowell J K
Abstract excerpt
The inheritance of a genetic susceptibility to the development of retinoblastoma generally follows an autosomal mode of inheritance with high penetrance. Rare families, however, show evidence of incomplete penetrance where individuals can transmit the mutant gene without being affected themselves...
Topics
- Base Sequence
- Eye Neoplasms
- Genes, Retinoblastoma
- Genetic Linkage
- Humans
- Molecular Sequence Data
- Mutation
- Polymorphism, Single-Stranded Conformational
- Retinoblastoma
- X Chromosome