Literature DB >> 604249

Improved technique for electrophoresis of human galactose-1-p uridyl transferase (EC 2.7.7.12).

M C Sparkes, M Crist, R S Sparkes.   

Abstract

A newly developed electrophoretic technique for human galactose-1-phosphate uridyl transferase confirms the multiple band patterns for the Duarte and Los Angeles variants. This represents the first confirmation for the Los Angeles variant. The observed frequencies of N, D, and LA types are similar to earlier reports for these variants.

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Year:  1977        PMID： 604249     DOI： 10.1007/bf00280835

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


  8 in total

1.  A method for galactose-1-phosphate uridyltransferase assay and the separation of its isozymes by DEAE-cellulose column chromatography.

Authors:  Y Shin-Bühring; M Osang; R Ziegler; J Schaub
Journal:  Clin Chim Acta       Date:  1976-08-02       Impact factor: 3.786

2.  [Investigations on the polymorphism of galactose-1-phosphate-uridyl-transferase by means of agarose gel electrophoresis].

Authors:  P Kühnl; L Nowicki; W Spielmann
Journal:  Humangenetik       Date:  1974

3.  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

4.  Population genetics of red cell galactose-1-phosphate-uridyl-transferase (EC:2.7.7.12).

Authors:  S Bissbort; J Kömpf
Journal:  Humangenetik       Date:  1972

5.  Purification of normal and inactive galactosemic galactose-1-phosphate uridylyltransferase from human red cells.

Authors:  G L Dale; G Popják
Journal:  J Biol Chem       Date:  1976-02-25       Impact factor: 5.157

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

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

7.  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

8.  Galactose-1-phosphate uridyl transferase in fibroblasts: isozymes in normal and variant states.

Authors:  G Hammersen; R Mandell; H L Levy
Journal:  Ann Hum Genet       Date:  1975-10       Impact factor: 1.670
  8 in total
  17 in total

1.  Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

Authors:  B Ibarra; G Vaca; J Sánchez-Corona; A Hernández; M L Ramirez; J M Cantú
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

2.  Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

Authors:  T Podskarbi; T Kohlmetz; B S Gathof; B Kleinlein; W P Bieger; U Gresser; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

Authors:  P Eydoux; C Junien; S Despoisse; J Chassevent; C Bibring; C Gregori
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.

Authors:  M W Andersen; V P Williams; M C Sparkes; R S Sparkes
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Where is the gene for GALT?

Authors:  M T Mulcahy; R G Wilson
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

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

Authors:  F Schapira; C Gregori; J Banroques; M Vidailhet; S Despoisses; C Vigneron
Journal:  Hum Genet       Date:  1979-01-19       Impact factor: 4.132

7.  Tetrasomy 9p: confirmation by enzyme analysis.

Authors:  S J Moedjono; B F Crandall; R S Sparkes
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

8.  Expression of galactose-1-p-uridyltransferase in Chinese hamster x human galactosemia somatic cell hybrids.

Authors:  R S Sparkes; T Mohandas; M C Sparkes; J D Shulkin
Journal:  Biochem Genet       Date:  1979-08       Impact factor: 1.890

9.  A common mutation associated with the Duarte galactosemia allele.

Authors:  L J Elsas; P P Dembure; S Langley; E M Paulk; L N Hjelm; J Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

10.  Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

Authors:  T Mohandas; R S Sparkes; M C Sparkes; J D Shulkin; K E Toomey; S J Funderburk
Journal:  Am J Hum Genet       Date:  1979-09       Impact factor: 11.025
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