Abstract
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.
| Translated title of the contribution | From gene to disease; retinoblastoma and the RB1 gene |
|---|---|
| Original language | Dutch |
| Pages (from-to) | 1245-1247 |
| Number of pages | 3 |
| Journal | Nederlands Tijdschrift voor Geneeskunde |
| Volume | 145 |
| Issue number | 26 |
| Publication status | Published - 30 Jun 2001 |