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Optimized Micro-Measurement of H.PRTase Activity on Fibroblasts and Hair Follicles

  • P. Baltassat
  • B. Mousson
  • M. C. Rissoan
  • M. T. Zabot
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

Detection of heterozygotes which are carriers of Lesh and Nyhan’s syndrome, poses a difficult problem, which has up to the present, not been solved in a very satisfactory way in current practice. This had led us, for genetic counseling, to reconsider in detail the determination methods of H.PRTase activity in cultured cells and in hair follicles.

Keywords

Genetic Counseling Hair Follicle Incubation Medium DEAE Cellulose Newborn Calf Serum 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    CARTIER P., HAMET M., 1968, Les activités purine - phosphoribosyl transférasiques des globules rouges humains: technique de dosage. Clin. Chim. Acta, 20: 205.Google Scholar
  2. 2.
    SILVERS D.N. et all., 1972, Detection of the heterozygote in Lesh-Nyhan disease by hair-root analysis. N. Engl. J. Med., 286: 390.Google Scholar

Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • P. Baltassat
    • 1
  • B. Mousson
    • 1
  • M. C. Rissoan
    • 1
  • M. T. Zabot
    • 1
  1. 1.Laboratoire de Biochimie — Pr J. COTTEHôpital DebrousseLyonFrance

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