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

The retinoblastoma-predisposition gene, RB1, segregates as an autosomal dominant trait with high (90%) penetrance. Certain families, however, show an unusual low-penetrance phenotype with many individuals being unaffected, unilaterally affected, or with evidence of spontaneously regressed tumors. We...

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Bibliographic Details
Published in:Proc Natl Acad Sci U S A
Main Authors: Onadim, Z, Hogg, A, Baird, P N, Cowell, J K
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 1992
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Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC402145/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1352883/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.89.13.6177
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