Literature DB >> 985381

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

I H Fox, P J Marchant, S LaCroix.   

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Year:  1976        PMID： 985381     DOI： 10.1007/bf00485837

Source DB:  PubMed          Journal:  Biochem Genet        ISSN： 0006-2928            Impact factor:   1.890


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  27 in total

1.  Heterogeneity of hypoxanthine guanine phosphoribosyl transferase from human erythrocytes.

Authors:  B Bakay; W L Nyhan
Journal:  Arch Biochem Biophys       Date:  1975-05       Impact factor: 4.013

2.  Analysis of human hypoxanthine-guanine phosphoribosyl transferase isozymes by isoelectric focusing in polyacrylamide gel.

Authors:  Z L Awdeh; R T Hallal; N W Wakid
Journal:  Biochem Genet       Date:  1973-05       Impact factor: 1.890

3.  Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

Authors:  J A McDonald; W N Kelley
Journal:  Biochem Genet       Date:  1972-02       Impact factor: 1.890

4.  A specific enzyme defect in gout associated with overproduction of uric acid.

Authors:  W N Kelley; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1967-06       Impact factor: 11.205

5.  Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.

Authors:  C H de Bruyn; T L Oei; B G ter Haar
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

6.  Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.

Authors:  B Bakay; W L Nyhan; N Fawcett; M D Kogut
Journal:  Biochem Genet       Date:  1972-08       Impact factor: 1.890

7.  Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure.

Authors:  W J Arnold; W N Kelley
Journal:  J Biol Chem       Date:  1971-12-10       Impact factor: 5.157

8.  Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.

Authors:  T F Yü; M E Balis; T A Krenitsky; J Dancis; D N Silvers; G B Elion; A B Gutman
Journal:  Ann Intern Med       Date:  1972-02       Impact factor: 25.391

9.  Isoelectric fractionation, analysis, and characterization of ampholytes in natural pH gradients. IV. Further studies on the resolving power in connection with separation of myoglobins.

Authors:  O Vesterberg; H Svensson
Journal:  Acta Chem Scand       Date:  1966

10.  The diagnosis of the carrier state for the Lesch--Nyhan syndrome.

Authors:  R O McKeran; T M Andrews; A Howell; D A Gibbs; S Chinn; W E Watts
Journal:  Q J Med       Date:  1975-04
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  3 in total

1.  Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.

Authors:  J M Wilson; B W Baugher; P M Mattes; P E Daddona; W N Kelley
Journal:  J Clin Invest       Date:  1982-03       Impact factor: 14.808

2.  [Properties of hypoxanthineguanine-phosphoribosyltransferase (HGPRTase) in a gout patient with partial deficiency of this enzyme (author's transl)].

Authors:  W Gröbner; N Zöllner
Journal:  Klin Wochenschr       Date:  1979-01-15

3.  Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.

Authors:  J M Wilson; P Frossard; R L Nussbaum; C T Caskey; W N Kelley
Journal:  J Clin Invest       Date:  1983-09       Impact factor: 14.808
  3 in total

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