Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles
- 7 May 1971
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 172 (3983), 572-574
- https://doi.org/10.1126/science.172.3983.572
Abstract
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.Keywords
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