Literature DB >> 5555078

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

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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Year:  1971        PMID： 5555078     DOI： 10.1126/science.172.3983.572

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  33 in total

1.  Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.

Authors:  T Yutaka; A L Fluharty; R L Stevens; H Kihara
Journal:  Am J Hum Genet       Date:  1978-11       Impact factor: 11.025

2.  Half chromatid mutations: transmission in humans?

Authors:  S M Gartler; U Francke
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

3.  Anderson-Fabry disease: rapid detection of carriers by hair bulb analysis.

Authors:  A Ejiofor; D Robinson; D Wise; M Hamers; J M Tager
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

4.  Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene.

Authors:  Cristina Lapucci; Diego Pomarè Montin; Massimo Pandolfo; Matteo Bertelli
Journal:  Mol Med       Date:  2006 Sep-Oct       Impact factor: 6.354

Review 5.  Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.

Authors:  J E Seegmiller
Journal:  Ann Rheum Dis       Date:  1980-04       Impact factor: 19.103

6.  Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type).

Authors:  G Romeo; A Rinaldi; F Urbano; G Filippi
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

7.  Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme.

Authors:  I H Fox; P J Marchant; S LaCroix
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890

8.  Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.

Authors:  P Hösli; C H de Bruyn; F J Oerlemans; M Verjaal; R E Nobrega
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

9.  Fabry's disease: heterozygote detection by hair root analysis.

Authors:  T Grimm; T F Wienker; H H Ropers
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

10.  Protein biosynthesis in cultured human hair follicle cells.

Authors:  P J Weterings; A J Vermorken; H Bloemendal
Journal:  Mol Biol Rep       Date:  1980-10-31       Impact factor: 2.316
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