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Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3).

Abstract
A chromosome 13 deletion in a patient with sporadic retinoblastoma appears to have separated the loci for retinoblastoma and esterase D. This study indicates that: (1) the retinoblastoma locus is distinct from the esterase D locus; and (2) the linear order of these genes is centromere-esterase D-retinoblastoma.
AuthorsR S Sparkes, M C Sparkes, R E Kalina, R A Pagon, D J Salk, C M Disteche
JournalHuman genetics (Hum Genet) Vol. 68 Issue 3 Pg. 258-9 ( 1984) ISSN: 0340-6717 [Print] Germany
PMID6500578 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Carboxylic Ester Hydrolases
  • Carboxylesterase
  • ESD protein, human
Topics
  • Carboxylesterase
  • Carboxylic Ester Hydrolases (genetics)
  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, 13-15
  • Female
  • Genetic Linkage
  • Hirschsprung Disease (genetics)
  • Humans
  • Retinoblastoma (enzymology, genetics)

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