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Article

A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype.

Oncogene - 18 Jun 1998

Cowell J K, Bia B

Abstract excerpt

We have used single strand conformation polymorphism analysis to study the 27 exons of the RB1 gene in individuals from a family showing 'mild' expression of the retinoblastoma phenotype. In this family affected individuals developed unilateral tumors and, as a result of linkage analysis, unaffected mutation carriers were also identified within the pedigree. A single band shift using SSCP was identified in exon...

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PMID: 9671401
DOI: 10.1038/sj.onc.1201833

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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