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PMID: 824731 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

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

Science (New York, N.Y.) ·Vol. 194 ·No. 4267 ·1976-11-19 ·Pages 851-2

George DL, Francke U

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.

MeSH Terms
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
Chemicals
Pentosyltransferases Purine-Nucleoside Phosphorylase
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
George D L
Francke U
Article Info
Journal
Science (New York, N.Y.)
Abbr.
Science
ISSN
0036-8075
DOI
10.1126/science.824731
Published
1976-11-19
Pages
851-2
Language
English
Region
United States
NLM ID
0404511
Subset
IM
External Links
PubMed source DOI: 10.1126/science.824731 View journal details
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