Article
[From gene to disease; retinoblastoma and the RB1 gene].
Nederlands tijdschrift voor geneeskunde - 30 Jun 2001
Scheffer H, Imhof S M, Moll A C
Abstract excerpt
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.
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