Deletions of the esterase D locus from a survey of 200 retinoblastoma patients

J. K. Cowell, P. Rutland, Marcelle Jay, J. Hungerford

Research output: Contribution to journalArticle

28 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)164-167
Number of pages4
JournalHuman Genetics
Volume72
Issue number2
DOIs
StatePublished - Feb 1 1986
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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