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. 1971 May 7;172(3983):572-4.
doi: 10.1126/science.172.3983.572.

Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles

S M Gartler, R C Scott, J L Goldstein, B Campbell

Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles

S M Gartler et al. Science. .

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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