Literature DB >> 6236143

Erythrocyte phosphoglucomutase: a family study of a PGM1 deficient allele.

R E Ferrell, M Escallon, L Aguilar, T Bertin.   

Abstract

We have observed a large Mexican American family segregating for a low activity allele at the phosphoglucomutase-1 locus. The deficient allele is detectable by starch gel electrophoresis and by direct activity determination. The presence of the deficient allele in either the homozygous or heterozygous condition is not associated with any other phenotypic finding.

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Year:  1984        PMID： 6236143     DOI： 10.1007/bf00291358

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


  17 in total

1.  Standardization of hemoglobinometry. II. The hemiglobincyanide method.

Authors:  E van KAMPEN; W G ZIJLSTRA
Journal:  Clin Chim Acta       Date:  1961-07       Impact factor: 3.786

2.  Differentiation of the PGM 2 locus isozymes from those of PGM 1 and PGM 3 in terms of phosphopentomutase activity.

Authors:  C B Quick; R A Fisher; H Harris
Journal:  Ann Hum Genet       Date:  1972-04       Impact factor: 1.670

3.  [Atypical segregation of phosphoglucomutase (PGM 1 ) in two successive generations, implying the existence of the silent allele, PGM 1 O].

Authors:  J Seger; C Salmon
Journal:  Nouv Rev Fr Hematol       Date:  1971 May-Jun

4.  A kinetic study of the isozymes determined by the three human phosphoglucomutase loci PGM1, PGM2, and PGM3.

Authors:  C B Quick; R A Fisher; H Harris
Journal:  Eur J Biochem       Date:  1974-03-01

5.  Inherited partial deficiency of the PGM gene: biochemical and densitometric studies.

Authors:  B Brinkmann; E Koops; O Klopp; K Heindl
Journal:  Ann Hum Genet       Date:  1972-03       Impact factor: 1.670

6.  [Problematic mother-child exclusion with PGM1].

Authors:  G G Wendt; G Kirchberg; M Rube; H Ritter
Journal:  Humangenetik       Date:  1971

7.  [A "new" phenotype in the isoenzyme system of the human phosphoglucomutases].

Authors:  H Fiedler; H Pettenkofer
Journal:  Blut       Date:  1969-03

8.  A new case of a silent allele in the PGM system.

Authors:  P Herzog; M Libich
Journal:  Hum Hered       Date:  1982       Impact factor: 0.444

9.  False-postive galactomsaemia screening.

Authors:  R Schön; O Thalhammer
Journal:  Lancet       Date:  1977-01-01       Impact factor: 79.321

10.  Red cell phosphoglucomutase (PGM)-deficiency: hereditary defect of the PGM1-locus.

Authors:  M Gahr; W Schröter
Journal:  Eur J Pediatr       Date:  1981-03       Impact factor: 3.183
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