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

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

Research output: Contribution to journalArticle

63 Scopus citations

Abstract

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

Original languageEnglish (US)
Pages (from-to)572-574
Number of pages3
JournalScience
Volume172
Issue number3983
DOIs
StatePublished - Jan 1 1971

ASJC Scopus subject areas

  • General

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