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Gene dose effect: regional mapping of human nuceloside phosphorylase on chromosome 14.

Abstract
Quantitative analyses of erythrocyte nucleoside phosphorylase in four unrelated cases of partial trisomy 14 indicate that the structural gene for this enzyme maps in the chromosome region 14q11 leads to 14q21.
AuthorsD L George, U Francke
JournalScience (New York, N.Y.) (Science) Vol. 194 Issue 4267 Pg. 851-2 (Nov 19 1976) ISSN: 0036-8075 [Print] United States
PMID824731 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Pentosyltransferases
  • Purine-Nucleoside Phosphorylase
Topics
  • Adolescent
  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Mapping
  • Chromosomes, Human, 13-15
  • Erythrocytes (enzymology)
  • Female
  • Genes
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Pentosyltransferases (blood)
  • Purine-Nucleoside Phosphorylase (blood)

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