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Article

Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.

American journal of human genetics - 1 Oct 1999

Otterson G A, Modi S, Nguyen K, Coxon A B, Kaye F J

Abstract excerpt

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, recessive model of tumorigenesis, the molecular basis for the phenotype of incomplete penetrance of familial...

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Identifiers

PMID: 10486322
DOI: 10.1086/302581
PMCID: PMC1288236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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