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 Citations (Scopus)

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
StatePublished - 1971

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Heterozygote Detection
Lesch-Nyhan Syndrome
Hypoxanthine Phosphoribosyltransferase
Hair Follicle
Heterozygote
Scalp

ASJC Scopus subject areas

  • General

Cite this

Gartler, S. M., Scott, R. C., Goldstein, J. L., Campbell, B., & Sparkes, R. (1971). Lesch-Nyhan syndrome: Rapid detection of heterozygotes by use of hair follicles. Science, 172(3983), 572-574.

Lesch-Nyhan syndrome : Rapid detection of heterozygotes by use of hair follicles. / Gartler, Stanley M.; Scott, Ronald C.; Goldstein, Joseph L.; Campbell, Barbara; Sparkes, Robert.

In: Science, Vol. 172, No. 3983, 1971, p. 572-574.

Research output: Contribution to journalArticle

Gartler, SM, Scott, RC, Goldstein, JL, Campbell, B & Sparkes, R 1971, 'Lesch-Nyhan syndrome: Rapid detection of heterozygotes by use of hair follicles', Science, vol. 172, no. 3983, pp. 572-574.
Gartler SM, Scott RC, Goldstein JL, Campbell B, Sparkes R. Lesch-Nyhan syndrome: Rapid detection of heterozygotes by use of hair follicles. Science. 1971;172(3983):572-574.
Gartler, Stanley M. ; Scott, Ronald C. ; Goldstein, Joseph L. ; Campbell, Barbara ; Sparkes, Robert. / Lesch-Nyhan syndrome : Rapid detection of heterozygotes by use of hair follicles. In: Science. 1971 ; Vol. 172, No. 3983. pp. 572-574.
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