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Temperature-Sensitive RB Mutations Linked to Incomplete Penetrance of Familial Retinoblastoma in 12 Families

The tumor-suppressor activity of the retinoblastoma protein (RB) is encoded within a protein-binding (“pocket”) domain that is targeted for mutations in all cases of familial retinoblastoma and in many common adult cancers. Although familial retinoblastoma is a paradigm for a highly penetrant, reces...

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Detalhes bibliográficos
Main Authors: Otterson, Gregory A., Modi, Sanjay, Nguyen, Kari, Coxon, Amy B., Kaye, Frederic J.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288236/
https://ncbi.nlm.nih.gov/pubmed/10486322
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