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Article

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

American journal of human genetics - 1 Jun 1993

Dryja T P, Rapaport J, McGee T L, Nork T M, Schwartz T L

Abstract excerpt

In one family with low-penetrance retinoblastoma, a germ-line deletion is shared by affected and unaffected, obligate carriers. The deletion encompasses exon 4 of the retinoblastoma gene and corresponds to a mutant protein without residues 127-166. In a second family, RFLP analysis shows that two distant relatives have independently derived mutations. These families, together with others reported elsewhere,...

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Identifiers

PMID: 8099255
PMCID: PMC1682279

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Source receipt: pubmed, retrieved 7 Sept 2026.

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