Literature DB >> 535893

Partial deficiency of red cell 6-phosphogluconate dehydrogenase: a family study.

F Ajmar, G Lamedica, C Garrè, R Ravazzolo, M Sessarego, A Campostano.   

Abstract

A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD0 allele. Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.

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Year:  1979        PMID： 535893     DOI： 10.1007/BF00278684

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  Genetically determined electrophoretic variations of human phosphogluconate dehydrogenase.

Authors:  N D Carter; R A Fildes; L I Fitch; C W Parr
Journal:  Acta Genet Stat Med       Date:  1968

2.  The red cell 6-phosphogluconate dehydrogenase polymorphism in certain Souther African populations: with the first report of a new phenotype.

Authors:  T Jenkins; G T Nurse
Journal:  Ann Hum Genet       Date:  1974-07       Impact factor: 1.670

3.  The distribution in man of genetic variants of 6-phosphogluconate dehydrogenase.

Authors:  D Tills; J L Van den Branden; V R Clements; A E Mourant
Journal:  Hum Hered       Date:  1970       Impact factor: 0.444

4.  Inherited quantitative variations of human phosphogluconate dehydrogenase.

Authors:  C W Parr; L I Fitch
Journal:  Ann Hum Genet       Date:  1967-05       Impact factor: 1.670

5.  International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis.

Authors:  E Beutler; K G Blume; J C Kaplan; G W Löhr; B Ramot; W N Valentine
Journal:  Br J Haematol       Date:  1977-02       Impact factor: 6.998

6.  Human 6-phosphogluconate dehydrogenase. Purification of the erythrocyte enzyme and the influence of ions and NADPH on its activity.

Authors:  B M Pearse; M A Rosemeyer
Journal:  Eur J Biochem       Date:  1974-02-15

7.  Red cell NADP+ and NADPH in glucose-6-phosphate dehydrogenase deficiency.

Authors:  H N Kirkman; G D Gaetani; E H Clemons; C Mareni
Journal:  J Clin Invest       Date:  1975-04       Impact factor: 14.808

8.  Hereditary variation of erythrocytic 6-phosphogluconate dehydrogenase.

Authors:  R J Dern; G J Brewer; R E Tashian; T B Shows
Journal:  J Lab Clin Med       Date:  1966-02

9.  Regional localization of loci for human PGM and 6PGD on human chromosome one by use of hybrids of Chinese hamster-human somatic cells.

Authors:  G R Douglas; P J McAlpine; J L Hamerton
Journal:  Proc Natl Acad Sci U S A       Date:  1973-10       Impact factor: 11.205

10.  The status of the gene map of the human chromosomes.

Authors:  V A McKusick; F H Ruddle
Journal:  Science       Date:  1977-04-22       Impact factor: 47.728
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