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Science 7 May 1971:
Vol. 172. no. 3983, pp. 572 - 574
DOI: 10.1126/science.172.3983.572
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Articles

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

Stanley M. Gartler 1, Ronald C. Scott 1, Joseph L. Goldstein 1, Barbara Campbell 1, and Robert Sparkes 2

1 Departments of Genetics, Medicine, and Pediatrics, University of Washington, Seattle 98105
2 Department of Medicine, University of California, Los Angeles

A method is described which permits rapid phenotypic diagnosis of the Lesch-Nyhan heterozygote by direct assay of hypoxanthine guanine phosphori-bosyltransferase activity in single hair follicles obtained from the scalp.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
An Approach to the Control of PRT Deficiency Through Antenatal Diagnosis.
W. Y. Fujimoto (1972)
Arch Intern Med 130, 207-211
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NEW YORK ACADEMY OF MEDICINE SECTION ON DERMATOLOGY AND SYPHILOLOGY.
H. J. Spoor (1972)
Arch Dermatol 105, 933-934
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Rarity of X-Linked Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in a Large Gouty Population.
T.-F. YU, M. E. BALIS, T. A. KRENITSKY, J. DANOIS, D. N. SILVERS, G. B. ELION, and A. B. GUTMAN (1972)
Ann Intern Med 76, 255-264
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