Literature DB >> 429011

Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants.

F Schapira, C Gregori, J Banroques, M Vidailhet, S Despoisses, C Vigneron.   

Abstract

A family with the presence of the genes for both galactosemia and the Duarte variant is described. Galactose 1 phospho uridyl transferase has been studied not only by electrophoresis on starch gel, but also by isoelectro-focusing on thin-layer acrylamide. Normal and variant transferases were resolved into three bands, the isoelectric point of which was between 5.40 and 5.10 for the normal subjects, and between 5.25 and 4.95 for subjects with the Duarte variant.

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Year:  1979        PMID： 429011     DOI： 10.1007/bf00278906

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


  24 in total

1.  Enzymatic micromethod for measuring galactose-1-phosphate uridylyltransferase activity in human erythrocytes.

Authors:  M A Pesce; S H Bodourian; R C Harris; J F Nicholson
Journal:  Clin Chem       Date:  1977-09       Impact factor: 8.327

2.  The Chicago variant of clinical galactosemia.

Authors:  C M Chacko; R S Wappner; I K Brandt; H L Nadler
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

3.  Study of a family with both galactosemic and Duarte variants of galactose-1-phospho uridyl transferase.

Authors:  F Schapira; C Gregori; L Poenaru
Journal:  Biochem Med       Date:  1974-09

4.  Isoelectric focusing of proteins in polyacrylamide gels.

Authors:  O Vesterberg
Journal:  Biochim Biophys Acta       Date:  1972-01-26

5.  A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

Authors:  W G Bergren; G N Donnell
Journal:  Ann Hum Genet       Date:  1973-07       Impact factor: 1.670

6.  Human galactose 1-phosphate uridyltransferase. Purification, antibody production, and comparison of the wild type, Duarte variant, and galactosemic gene products.

Authors:  T A Tedesco
Journal:  J Biol Chem       Date:  1972-10-25       Impact factor: 5.157

7.  Electrophoretic variation of galactose-1-phosphate uridyltransferase.

Authors:  C K Mathai; E Beutler
Journal:  Science       Date:  1966-12-02       Impact factor: 47.728

8.  The genetics of galactose-1-phosphate uridyl transferase deficiency.

Authors:  E Beutler; M C Baluda; P Sturgeon; R W Day
Journal:  J Lab Clin Med       Date:  1966-10

9.  Galactosemia: evidence for a structural gene mutation.

Authors:  T A Tedesco; W J Mellman
Journal:  Science       Date:  1971-05-14       Impact factor: 47.728

10.  Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

Authors:  H L Nadler; C M Chacko; M Rachmeler
Journal:  Proc Natl Acad Sci U S A       Date:  1970-10       Impact factor: 11.205
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  2 in total

1.  Partial galactose disorders in families with premature cataracts.

Authors:  A F Winder; L J Claringbold; R B Jones; B S Jay; N S Rice; R D Kissun; I S Menzies; J N Mount
Journal:  Arch Dis Child       Date:  1983-05       Impact factor: 3.791

2.  Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

Authors:  R I Kelley; H Harris; W J Mellman
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
  2 in total

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