Literature DB >> 4689035

Family studies of a Lesch-Nyhan patient from an isolated Canadian community.

K Itiaba, M Banfalvi, J C Crawhall, J G Mongeau.   

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Year:  1973        PMID： 4689035      PMCID： PMC1762516     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  11 in total

1.  The enzymatic spectrophotometric method for determination of uric acid.

Authors:  L LIDDLE; J E SEEGMILLER; L LASTER
Journal:  J Lab Clin Med       Date:  1959-12

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

Review 3.  Diagnosis and treatment of the Lesch-Nyhan syndrome.

Authors:  J C Crawhall; J F Henderson; W N Kelley
Journal:  Pediatr Res       Date:  1972-05       Impact factor: 3.756

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.  Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.

Authors:  J Dancis; P H Berman; V Jansen; M E Balis
Journal:  Life Sci       Date:  1968-06-15       Impact factor: 5.037

6.  Genetic studies of HG- PRT deficiency and the Lesch-Nyhan syndrome with cultured human cells.

Authors:  R DeMars
Journal:  Fed Proc       Date:  1971 May-Jun

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.  Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.

Authors:  W L Nyhan; B Bakay; J D Connor; J F Marks; D K Keele
Journal:  Proc Natl Acad Sci U S A       Date:  1970-01       Impact factor: 11.205

10.  Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.

Authors:  W Y Fujimoto; J H Subak-Sharpe; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1971-07       Impact factor: 11.205
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  3 in total

1.  Half chromatid mutations: transmission in humans?

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

2.  Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.

Authors:  D Sinnett; L Lavergne; S B Melançon; L Dallaire; M Potier; D Labuda
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

3.  The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

Authors:  U Francke; J Felsenstein; S M Gartler; B R Migeon; J Dancis; J E Seegmiller; F Bakay; W L Nyhan
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025
  3 in total

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