Literature DB >> 5009595

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.

B T Emmerson, D C Wallace, C J Thompson.   

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Year:  1972        PMID: 5009595     DOI: 10.7326/0003-4819-76-2-285

Source DB:  PubMed          Journal:  Ann Intern Med        ISSN: 0003-4819            Impact factor:   25.391


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  12 in total

1.  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

2.  Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

Authors:  B R Migeon; J Axelman; S Jan de Beur; D Valle; G A Mitchell; K N Rosenbaum
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

3.  Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.

Authors:  B T Emmerson; L Thompson; D C Wallace; M A Spence
Journal:  Am J Hum Genet       Date:  1974-01       Impact factor: 11.025

4.  Simplified methods for the measurement and electrophoretic demonstration of hypoxanthine-guanine phosphoribosyl transferase. Evidence for dimeric enzyme structure in various mammals.

Authors:  H H Ropers
Journal:  Humangenetik       Date:  1972

5.  Biochemical genetics of HPRT Cape Town: is the defect in the HPRT gene?

Authors:  T Galloon; E H Harley
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

6.  Gout and neurological abnormalities associated with cardiomyopathy in a young man.

Authors:  M E Mavrikakis; P P Sfikakis; D A Kontoyannis; L G Antoniades; C Tsakanikas
Journal:  Ann Rheum Dis       Date:  1990-11       Impact factor: 19.103

Review 7.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  C H de Bruyn
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

8.  Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

Authors:  G Rijksen; G E Staal; M J van der Vlist; F a Beemer; J Troost; W Gutensohn; J P van Laarhoven; C H de Bruyn
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  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

10.  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

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