Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

A deficiency of adenine phosphoribosyltransferase (A-PRTase) is described in four members in three generations of one family. A-PRTase is coded by an autosome and the mutants described in this report are heterozygotes for this enzyme defect. The level of enzyme activity in these heterozygotes was in...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Kelley, William N., Levy, Robert I., Rosenbloom, Frederick M., Henderson, J. Frank, Seegmiller, J. Edwin
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1968
Schlagworte:	Articles
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC297392/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/5676523/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI105913
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