Literature DB >> 457126

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

B Ibarra, G Vaca, J Sánchez-Corona, A Hernández, M L Ramirez, J M Cantú.   

Abstract

Enzymatic activity and electrophoretic mobility of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) were assayed in a Mexican family (8 sibs and their parents) with two galactosemic members. Normal, galactosemic and Los Angeles enzyme variants were identified. A survey of the ethnological backgrounds of the individuals reported to date with the Los Angeles variant showed multiple origins that could be explained by an ancient and widespread gene mutation or, more probably, by further biochemical heterogeneity.

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Year:  1979        PMID: 457126     DOI: 10.1007/bf00273284

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


  13 in total

1.  GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ASSAY BY USE OF RADIOACTIVE GALACTOSE-1-PHOSPHATE.

Authors:  W G NG; W R BERGEN; G N DONNELL
Journal:  Clin Chim Acta       Date:  1964-10       Impact factor: 3.786

2.  Congenital galactosemia, a single enzymatic block in galactose metabolism.

Authors:  K J ISSELBACHER; E P ANDERSON; K KURAHASHI; H M KALCKAR
Journal:  Science       Date:  1956-04-13       Impact factor: 47.728

3.  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

4.  [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

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.  Unstable galactose-1-phosphate uridyl transferase: a new variant of galactosemia.

Authors:  C M Chacko; J C Christian; H L Nadler
Journal:  J Pediatr       Date:  1971-03       Impact factor: 4.406

7.  Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia.

Authors:  F Schapira; J C Kaplan
Journal:  Biochem Biophys Res Commun       Date:  1969-05-22       Impact factor: 3.575

8.  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

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

Authors:  M C Sparkes; M Crist; R S Sparkes
Journal:  Hum Genet       Date:  1977-12-29       Impact factor: 4.132

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

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

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  2 in total

1.  Molecular basis for Duarte and Los Angeles variant galactosemia.

Authors:  S D Langley; K Lai; P P Dembure; L N Hjelm; L J Elsas
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

2.  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

  2 in total

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