Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function

To study the molecular basis for the clinical phenotype of incomplete penetrance of familial retinoblastoma, we have examined the functional properties of three RB mutations identified in the germ line of five different families with low penetrance. RB mutants isolated from common adult cancers and...

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Autores principales: Otterson, Gregory A., Chen, Wei-dong, Coxon, Amy B., Khleif, Samir N., Kaye, Frederic J.
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 1997
Materias:
Biological Sciences
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC23695/
https://ncbi.nlm.nih.gov/pubmed/9342358
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