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

doi:10.1038/sj.onc.1201833

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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, unaffec...

Topics

Female
Genetic Carrier Screening
Humans
Male
Mutation
Pedigree
Phenotype
Retinal Neoplasms
Retinoblastoma

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