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Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

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  • 1. Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.
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    • Dryja TP 1
    (1 author)

American Journal of Human Genetics, 01 Jun 1993, 52(6):1122-1128
PMID: 8099255 PMCID: PMC1682279

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Abstract 

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, indicate that attributes of alleles at the retinoblastoma locus specify penetrance.

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Logo of ajhgGuide for AuthorsAbout this journalExplore this journalAmerican Journal of Human Genetics
Am J Hum Genet. 1993 Jun; 52(6): 1122–1128.
PMCID: PMC1682279
PMID: 8099255

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

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

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, indicate that attributes of alleles at the retinoblastoma locus specify penetrance.

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Selected References

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