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Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles |
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| Authors: | S M Gartler R C Scott J L Goldstein B Campbell |
| 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. |
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