Literature DB >> 5041886

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

B Bakay, W L Nyhan, N Fawcett, M D Kogut.   

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Year:  1972        PMID: 5041886     DOI: 10.1007/bf00487011

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


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  18 in total

1.  A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

Authors:  M LESCH; W L NYHAN
Journal:  Am J Med       Date:  1964-04       Impact factor: 4.965

2.  Human hypoxanthine phosphoribosyltransferase. II. Kinetics and chemical modification.

Authors:  T A Krenitsky; R Papaioannou
Journal:  J Biol Chem       Date:  1969-03-10       Impact factor: 5.157

3.  Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.

Authors:  B Bakay; W L Nyhan
Journal:  Biochem Genet       Date:  1972-04       Impact factor: 1.890

4.  Genetic analysis of mutants producing defective beta-galactosidase which can be activated by specific antibodie.

Authors:  F Melchers
Journal:  Mol Gen Genet       Date:  1970

5.  Detection of radioactive components in polyacrylamide gel disc electropherograms by automated mechanical fractionation.

Authors:  B Bakay
Journal:  Anal Biochem       Date:  1971-04       Impact factor: 3.365

6.  Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase.

Authors:  J F Henderson; L W Brox; W N Kelley; F M Rosenbloom; J E Seegmiller
Journal:  J Biol Chem       Date:  1968-05-25       Impact factor: 5.157

7.  Inheritance of purine phosphoribosyltransferases in man.

Authors:  J F Henderson; W N Kelley; F M Rosenbloom; J E Seegmiller
Journal:  Am J Hum Genet       Date:  1969-01       Impact factor: 11.025

8.  Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.

Authors:  J Salzmann; R DeMars; P Benke
Journal:  Proc Natl Acad Sci U S A       Date:  1968-06       Impact factor: 11.205

9.  X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

Authors:  B R Migeon; V M Der Kaloustian; W L Nyhan; W J Yough; B Childs
Journal:  Science       Date:  1968-04-26       Impact factor: 47.728

10.  Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.

Authors:  J A McDonald; W N Kelley
Journal:  Science       Date:  1971-02-19       Impact factor: 47.728

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  10 in total

1.  Developmental changes in purine phosphoribosyltransferases in human and rat tissues.

Authors:  A Adams; R A Harkness
Journal:  Biochem J       Date:  1976-12-15       Impact factor: 3.857

2.  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

3.  Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

Authors:  R J Albertini; R DeMars
Journal:  Biochem Genet       Date:  1974-05       Impact factor: 1.890

4.  Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.

Authors:  B Bakay; W L Nyhan
Journal:  Proc Natl Acad Sci U S A       Date:  1972-09       Impact factor: 11.205

5.  Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines.

Authors:  J E Lever; G Nuki; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1974-07       Impact factor: 11.205

6.  [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

7.  Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.

Authors:  J Dancis; L C Yip; R P Cox; S Piomelli; M E Balis
Journal:  J Clin Invest       Date:  1973-08       Impact factor: 14.808

8.  An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.

Authors:  G H Strauss; E F Allen; R J Albertini
Journal:  Biochem Genet       Date:  1980-06       Impact factor: 1.890

9.  Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.

Authors:  I H Fox; I L Dwosh; P J Marchant; S Lacroix; M R Moore; S Omura; V Wyhofsky
Journal:  J Clin Invest       Date:  1975-11       Impact factor: 14.808

10.  Human regulatory gene for inducible tyrosine aminotransferase in rat-human hybrids.

Authors:  C M Croce; G Litwack; H Koprowski
Journal:  Proc Natl Acad Sci U S A       Date:  1973-04       Impact factor: 11.205

  10 in total

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