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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Naturearrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Nature
Article . 1975 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
Nature
Article . 1975
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Gene dosage effect in human trisomy 16

Authors: B, Marimo; F, Giannelli;

Gene dosage effect in human trisomy 16

Abstract

AFTER the discovery of autosomal trisomies in man, the activity of various enzymes in trisomic cells was measured in the belief that proportionality between gene dose and enzyme activity would help in identifying genes carried by trisomic chromosomes1–5. It became apparent, however, that the trisomic state could produce changes in enzyme activity unrelated to gene dose, probably by interfering with normal physiological processes6. Therefore, verification of the concept that a simple rapport of proportionality between gene dose and concentration of secondary gene product could exist in cells with auiosomal trisomy, as it does in diploid cells with gene mutations or in mouse eggs with different numbers of X chromosomes7, had to await the recent advances in human chromosome mapping. We report here the results of a study of gene dose effects in trisomy 16.

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Keywords

Male, Hypoxanthine Phosphoribosyltransferase, Adenine Phosphoribosyltransferase, Trisomy, Glucosephosphate Dehydrogenase, Cell Line, Polyploidy, Sex Factors, Genes, Humans, Female, Adenosine Kinase, Alleles, Chromosomes, Human, 16-18

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
44
Average
Top 10%
Top 10%
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