Literature DB >> 5763607

Inheritance of purine phosphoribosyltransferases in man.

J F Henderson, W N Kelley, F M Rosenbloom, J E Seegmiller.   

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Year:  1969        PMID： 5763607      PMCID： PMC1706393     

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


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  10 in total

1.  GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE.

Authors:  W E NANCE
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1964

2.  HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.

Authors:  D HOEFNAGEL; E D ANDREW; N G MIREAULT; W O BERNDT
Journal:  N Engl J Med       Date:  1965-07-15       Impact factor: 91.245

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

4.  Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases.

Authors:  J F Henderson; H R Miller; W N Kelley; F M Rosenbloom; J E Seegmiller
Journal:  Can J Biochem       Date:  1968-07

5.  X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.

Authors:  S L Shapiro; G L Sheppard; F E Dreifuss; D S Newcombe
Journal:  Proc Soc Exp Biol Med       Date:  1966-06

6.  Detection of glucose-6-phosphate dehydrogenase deficient heterozygotes.

Authors:  G Stamatoyannopoulos; T Papayannopoulou; C Bakopoulos; A G Motulsky
Journal:  Blood       Date:  1967-01       Impact factor: 22.113

7.  Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.

Authors:  F M Rosenbloom; W N Kelley; J Miller; J F Henderson; J E Seegmiller
Journal:  JAMA       Date:  1967-10-16       Impact factor: 56.272

8.  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

9.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Authors:  J E Seegmiller; F M Rosenbloom; W N Kelley
Journal:  Science       Date:  1967-03-31       Impact factor: 47.728

10.  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
  10 in total
  12 in total

1.  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

2.  A new HGPRT-deficient phenotype?

Authors:  S Kelly; E J Hart; L Desjardins
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

3.  [Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography].

Authors:  A M Hagemeijer; P Dodinval; J M Andrien
Journal:  Humangenetik       Date:  1972

4.  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

5.  Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.

Authors:  M L Greene; W L Nyhan; J E Seegmiller
Journal:  Am J Hum Genet       Date:  1970-01       Impact factor: 11.025

6.  X-chromosome inactivation and the Xg locus.

Authors:  P J Fialkow
Journal:  Am J Hum Genet       Date:  1970-07       Impact factor: 11.025

7.  8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase.

Authors:  F D Gillin; D J Roufa; A L Beaudet; C T Caskey
Journal:  Genetics       Date:  1972-10       Impact factor: 4.562

8.  Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example.

Authors:  Shin-Ichi Kuno; Atsuo Taniguchi; Akira Saito; Sanae Tsuchida-Otsuka; Naoyuki Kamatani
Journal:  J Hum Genet       Date:  2004-07-28       Impact factor: 3.172

Review 9.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

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

10.  Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization.

Authors:  J A Tischfield; F H Ruddle
Journal:  Proc Natl Acad Sci U S A       Date:  1974-01       Impact factor: 11.205
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