Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.

doi:10.1007/BF00201591

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Article

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.

Human genetics - 1 Oct 1994

Lohmann D R, Brandt B, Höpping W, Passarge E, Horsthemke B

Abstract excerpt

The interfamilial diversity in penetrance and expressivity of hereditary retinoblastoma was investigated in 29 families. By using a simple parameter for estimating the severity of the disease (diseased-eye-ratio), we were able to identify four families with a discrete low-penetrance phenotype. Th...

Topics

Base Sequence
Exons
Eye Neoplasms
Female
Genes, Retinoblastoma
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Retinoblastoma

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