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...
Shranjeno v:
| izdano v: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
1992
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| Teme: | |
| Online dostop: | 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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