Literature DB >> 5916143

Biochemical properties of human red cell galactose-1-phosphate uridyl transferase (UDP glucose: alpha-D-galactose-1-phosphate uridyltransferase E.C.2.7.7.12) from normal and mutant subjects.

E Beutler, M C Baluda, A Halasz.   

Abstract

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Year:  1966        PMID： 5916143

Source DB:  PubMed          Journal:  J Lab Clin Med        ISSN： 0022-2143


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  9 in total

1.  A new genetic variant of galactose-1-phosphate uridyl transferase.

Authors:  R Scherz; R Pflugshaupt; R Bütler
Journal:  Hum Genet       Date:  1976-12-29       Impact factor: 4.132

2.  Characteristics of galactokinase and galactose-1-phosphate uridyltransferase in cultivated fibroblasts and amniotic fluid cells.

Authors:  Y Shin-Buehring; H Leitner; H Henseleit; A Wirtz; B Haas; J Schaub
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

3.  UDP-glucose: alpha-D-galactose-1-phosphate uridylytransferase activity in cultured human fibroblasts.

Authors:  J D Russell; R DeMars
Journal:  Biochem Genet       Date:  1967-06       Impact factor: 1.890

4.  Liver galactose-1-phosphate uridyl transferase: activity in normal and galactosemic subjects.

Authors:  S Segal; S Rogers; P G Holtzapple
Journal:  J Clin Invest       Date:  1971-03       Impact factor: 14.808

5.  Prenatal diagnosis of galactosaemia.

Authors:  A H Fensom; P F Benson; S Blunt
Journal:  Br Med J       Date:  1974-11-16

6.  Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.

Authors:  Mohamed Jama; Lesa Nelson; Genevieve Pont-Kingdon; Rong Mao; Elaine Lyon
Journal:  J Mol Diagn       Date:  2007-09-20       Impact factor: 5.568

7.  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

8.  On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

Authors:  H C Lin; L T Kirby; W G Ng; J K Reichardt
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

9.  A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.

Authors:  Hyung-Doo Park; Yoon-Kyoung Kim; Kyoung Un Park; Jin Q Kim; Young-Han Song; Junghan Song
Journal:  BMC Med Genet       Date:  2009-03-24       Impact factor: 2.103
  9 in total

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