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. 1991 May 1;39(2):196-200.
doi: 10.1002/ajmg.1320390215.

Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma

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Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma

K Kloss et al. Am J Med Genet. .

Abstract

DNA samples from 92 unrelated patients with bilateral retinoblastoma were analyzed by Southern blot hybridization with cDNA and genomic clones of the retinoblastoma (RB-1) gene. Qualitative and quantitative evaluation of the Southern blot patterns showed a deletion of all or part of the RB-1 gene in 15 patients. Deletion hot spots were not detected. The study shows that 16% of germ cell mutations are detectable by Southern blot hybridization, but that densitometric analysis is required in most cases.

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