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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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Detalhes bibliográficos
Main Authors: Otterson, Gregory A., Chen, Wei-dong, Coxon, Amy B., Khleif, Samir N., Kaye, Frederic J.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1997
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC23695/
https://ncbi.nlm.nih.gov/pubmed/9342358
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