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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Bibliografiske detaljer

Udgivet i:	Proc Natl Acad Sci U S A
Principais autores:	Onadim, Z, Hogg, A, Baird, P N, Cowell, J K
Format:	Artigo
Sprog:	Inglês
Udgivet:	National Academy of Sciences 1992
Fag:	Research Article
Online adgang:	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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