Is HPRT-like Protein Present in Lesch-Nyhan Patients?
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The gross structure of the HPRT gene by Southern blotting: 13 of the 15 had mutations that did not involve major gene rearrangements;
The concentration and molecular size of HPRT mRNA by Northern blotting: 12 had HPRT mRNA of apparently normal size and concentration; and (c) The concentration of HPRT protein by radioimmunoassay: 11 of the 15 patients had undetectable amounts of HPRT protein; the other four had 1.3, 50, 72 and 92% of normal.
KeywordsSevere Deficiency HPRT Gene Subunit Molecular Weight Precipitin Line Immunodiffusion Test
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