Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype

Medicine & Life Sciences

• Retinoblastoma 100%
• Penetrance 97%
• Point Mutation 82%
• Exons 70%
• Phenotype 50%
• Codon 50%
• RNA Splice Sites 42%
• Terminator Codon 40%
• Genes 34%
• Mutation 28%
• Retinoblastoma Genes 23%
• Alternative Splicing 18%
• Tryptophan 17%
• Glutamine 17%
• Arginine 15%
• Carcinogenesis 12%
• Proteins 12%
• Amino Acids 11%
• Polymerase Chain Reaction 9%
• Neoplasms 5%