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Mutant enzyme immunologic studies

Several types of human mutants with hypoxanthine uanine phospho-ribosyltransferase defects have recently been identified (8, 41, 42). Cells from patients with the so-called Lesch-Nyhan syndrome have very low i4S) or undetectable activities of this enzyme, but immunological studies have demonstrated that the enzyme protein is made even when it is cata-lytically inactive 44)- In some patients with gout, 0.05 to 10% of normal activity remains isozymes (45) and other mutants (46) have also been detected. The structural gene for hypoxanthine-guanine phosphoribo-syltransferase is on the X chromosome, and mutations at this locus are, therefore, only fully expressed in males. [Pg.129]

HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (HGPRT) DEFICIENCY IMMUNOLOGIC STUDIES ON THE MUTANT ENZYME... [Pg.177]

See other pages where Mutant enzyme immunologic studies is mentioned: [Pg.444]    [Pg.48]    [Pg.160]    [Pg.435]    [Pg.418]    [Pg.411]    [Pg.71]    [Pg.200]   
See also in sourсe #XX -- [ Pg.177 , Pg.178 , Pg.179 , Pg.180 , Pg.181 , Pg.182 , Pg.183 , Pg.184 , Pg.185 , Pg.186 , Pg.187 , Pg.188 , Pg.189 , Pg.190 , Pg.191 , Pg.192 , Pg.193 ]

See also in sourсe #XX -- [ Pg.177 , Pg.178 , Pg.179 , Pg.180 , Pg.181 , Pg.182 , Pg.183 , Pg.184 , Pg.185 , Pg.186 , Pg.187 , Pg.188 , Pg.189 , Pg.190 , Pg.191 , Pg.192 , Pg.193 ]



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Immunologic

Immunological

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