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...
Topics
- Base Sequence
- DNA, Single-Stranded
- Female
- Gene Deletion
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length
- Retinoblastoma