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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
826
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pubmed:dateCreated |
1968-5-23
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pubmed:abstractText |
Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of (3)H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate (3)H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0036-8075
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
26
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pubmed:volume |
160
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
425-7
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pubmed:dateRevised |
2007-8-17
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pubmed:meshHeading |
pubmed-meshheading:4868511-Autoradiography,
pubmed-meshheading:4868511-Clone Cells,
pubmed-meshheading:4868511-Culture Techniques,
pubmed-meshheading:4868511-Female,
pubmed-meshheading:4868511-Fibroblasts,
pubmed-meshheading:4868511-Glucosyltransferases,
pubmed-meshheading:4868511-Guanine,
pubmed-meshheading:4868511-Guanine Nucleotides,
pubmed-meshheading:4868511-Heterozygote,
pubmed-meshheading:4868511-Humans,
pubmed-meshheading:4868511-Hypoxanthines,
pubmed-meshheading:4868511-Microscopy, Phase-Contrast,
pubmed-meshheading:4868511-Molecular Biology,
pubmed-meshheading:4868511-Mutation,
pubmed-meshheading:4868511-Purine-Pyrimidine Metabolism, Inborn Errors,
pubmed-meshheading:4868511-Sex Chromosomes,
pubmed-meshheading:4868511-Skin,
pubmed-meshheading:4868511-Tritium
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pubmed:year |
1968
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pubmed:articleTitle |
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
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pubmed:publicationType |
Journal Article,
In Vitro
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