[From gene to disease; retinoblastoma and the RB1 gene].
Copyright policy )[From gene to disease; retinoblastoma and the RB1 gene].
Retinoblastoma is caused by mutations in the RB1 gene. The penetrance is 95%, as in approximately 5% of the mutation carriers, no second somatic mutation occurs in one of their retina cells during embryonic development. Molecular diagnosis is performed by a complete scanning of the RB1 coding sequence which includes flanking intronic sequences. Approximately 85% of pathogenic mutations can be identified.
Contains fulltext : 165461.pdf (Publisher’s version ) (Closed access)
- Radboud University Nijmegen Netherlands
Genotype, Elucidation of hereditary disorders and their molecular diagnosis, Retinal Neoplasms, DNA Mutational Analysis, Retinoblastoma, Retinoblastoma Protein, Pedigree, Phenotype, Mutation, Humans, Genetic Predisposition to Disease, Genes, Retinoblastoma, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, Child
Genotype, Elucidation of hereditary disorders and their molecular diagnosis, Retinal Neoplasms, DNA Mutational Analysis, Retinoblastoma, Retinoblastoma Protein, Pedigree, Phenotype, Mutation, Humans, Genetic Predisposition to Disease, Genes, Retinoblastoma, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, Child
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).0 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!