Literature DB >> 4354247

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

J A McDonald, W N Kelley.   

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Year:  1972        PMID： 4354247     DOI： 10.1007/bf00485961

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


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  13 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.  Dependence of bone marrow cells on the liver for purine supply.

Authors:  L G LAJTHA; J R VANE
Journal:  Nature       Date:  1958-07-19       Impact factor: 49.962

3.  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

Review 4.  Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.

Authors:  W N Kelley; M L Greene; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  Ann Intern Med       Date:  1969-01       Impact factor: 25.391

5.  X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.

Authors:  B R Migeon
Journal:  Biochem Genet       Date:  1970-06       Impact factor: 1.890

6.  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

7.  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

8.  Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors:  M F LYON
Journal:  Nature       Date:  1961-04-22       Impact factor: 49.962

9.  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

10.  Effects of allopurinol and oxipurinol on purine synthesis in cultured human cells.

Authors:  W N Kelley; J B Wyngaarden
Journal:  J Clin Invest       Date:  1970-03       Impact factor: 14.808
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  16 in total

1.  Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia.

Authors:  A Rinaldi; G Filippi; M Siniscalco
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

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.  B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers.

Authors:  J Schwaber; J Payne; R Chen
Journal:  J Clin Invest       Date:  1988-02       Impact factor: 14.808

5.  Evidence for preferential X-chromosome inactivation in a family with Fabry disease.

Authors:  H H Ropers; T F Wienker; T Grimm; K Schroetter; K Bender
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

6.  Age-dependency of somatic selection in South African Negro G-6-PD heterozygotes.

Authors:  H W Hitzeroth; K Bender
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 7.  Mouse models of hypoxanthine phosphoribosyltransferase deficiency.

Authors:  D J Williamson; M L Hooper; D W Melton
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

8.  Manifestation of the fragile site Xq27 in fibroblasts. III. A method to demonstrate R-type replication patterns and the fragile site.

Authors:  G Barbi; P Steinbach; A Wiedenmann; W Vogel
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 9.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

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

10.  Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.

Authors:  M Hakoda; Y Hirai; M Akiyama; H Yamanaka; C Terai; N Kamatani; S Kashiwazaki
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132
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