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  • Title: Deletions of the esterase D locus from a survey of 200 retinoblastoma patients.
    Author: Cowell JK, Rutland P, Jay M, Hungerford J.
    Journal: Hum Genet; 1986 Feb; 72(2):164-7. PubMed ID: 3943870.
    Abstract:
    Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed as deletion carriers. These observations demonstrate the benefit of screening retinoblastoma populations for esterase D deficiency.
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