Literature DB >> 4536365

Genetic heterogeneity in inherited disease.

H Harris.   

Abstract

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Year:  1974        PMID： 4536365      PMCID： PMC1347202     

Source DB:  PubMed          Journal:  J Clin Pathol Suppl (R Coll Pathol)        ISSN： 0144-0330


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  24 in total

1.  Hurler's syndrome, an -L-iduronidase deficiency.

Authors:  R Matalon; A Dorfman
Journal:  Biochem Biophys Res Commun       Date:  1972-05-26       Impact factor: 3.575

2.  The Sanfilippo A corrective factor. Purification and mode of action.

Authors:  H Kresse; E F Neufeld
Journal:  J Biol Chem       Date:  1972-04-10       Impact factor: 5.157

3.  Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder.

Authors:  H L Sharp; R A Bridges; W Krivit; E F Freier
Journal:  J Lab Clin Med       Date:  1969-06

4.  Defective erythrocyte pyruvate kinase with impaired kinetics and reduced optimal activity.

Authors:  D E Paglia; W N Valentine; D L Rucknagel
Journal:  Br J Haematol       Date:  1972-06       Impact factor: 6.998

5.  Human glucose-6-phosphate dehydrogenase variants.

Authors:  A Yoshida; E Beutler; A G Motulsky
Journal:  Bull World Health Organ       Date:  1971       Impact factor: 9.408

6.  Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.

Authors:  W N Kelley
Journal:  Fed Proc       Date:  1968 Jul-Aug

7.  Inherited variations in human phosphohexose isomerase.

Authors:  J C Detter; P O Ways; E R Giblett; M A Baughan; D A Hopkinson; S Povey; H Harris
Journal:  Ann Hum Genet       Date:  1968-05       Impact factor: 1.670

8.  Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.

Authors:  W N Kelley; J C Meade
Journal:  J Biol Chem       Date:  1971-05-10       Impact factor: 5.157

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.  Characterization of two new variants of glucose-phosphate-isomerase deficiency with hereditary nonspherocytic hemolytic anemia.

Authors:  K G Blume; W Hryniuk; D Powars; F Trinidad; C West; E Beutler
Journal:  J Lab Clin Med       Date:  1972-06
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  2 in total

1.  Highly variable regions of DNA flank the human alpha globin genes.

Authors:  D R Higgs; S E Goodbourn; J S Wainscoat; J B Clegg; D J Weatherall
Journal:  Nucleic Acids Res       Date:  1981-09-11       Impact factor: 16.971

2.  Detection of genetic heterogeneity among pedigrees through complex segregation analysis: an application to hypercholesterolemia.

Authors:  P P Moll; T D Berry; W H Weidman; R Ellefson; H Gordon; B A Kottke
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025
  2 in total

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