Summary
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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Cowell, J.K., Rutland, P., Jay, M. et al. Deletions of the esterase D locus from a survey of 200 retinoblastoma patients. Hum Genet 72, 164–167 (1986). https://doi.org/10.1007/BF00283938
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DOI: https://doi.org/10.1007/BF00283938