Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme.

@article{Wilson1982HumanAP,
  title={Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme.},
  author={James Michael Wilson and Peter E. Daddona and H. Anne Simmonds and Koen Van Acker and William Kelley},
  journal={The Journal of biological chemistry},
  year={1982},
  volume={257 3},
  pages={1508-15}
}
We have studied the catalytic, immunochemical, and electrophoretic properties of adenine phosphoribosyltransferase in hemolysates from 30 patients with a deficiency of this enzyme in six unrelated families. We have found that: 1) the level of adenine phosphoribosyltransferase enzyme activity and immunoreactive protein in the four homozygous deficient patients was less than 1% of control values; 2) adenine phosphoribosyltransferase enzyme activity was uniformly decreased to approximately 25% of… CONTINUE READING

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