A "new" allele of esterase D in a retinoblastoma family

Hum Genet. 1988 Mar;78(3):289-90. doi: 10.1007/BF00291680.

Abstract

We describe a new rare allele for esterase D (EsD) occurring in a Portuguese family with retinoblastoma in two generations.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alleles*
  • Carboxylesterase*
  • Carboxylic Ester Hydrolases / genetics*
  • Child
  • Eye Neoplasms / genetics*
  • Female
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • Retinoblastoma / genetics*

Substances

  • Carboxylic Ester Hydrolases
  • Carboxylesterase
  • ESD protein, human