Literature DB >> 4995463

Galactosemia: evidence for a structural gene mutation.

T A Tedesco, W J Mellman.   

Abstract

Identical immunoprecipitin reactions appeared in double immunodiffusion between rabbit anltibodies to human galactose-1-phosphate uridyl transferase and red cell preparations from both normal and galactosemic individuals. The galactosemic erythrocyte preparations quantitatively absorbed the antiboy that immunoprecipitates enzymatically active galactose-1-phosphate uridyl transferase.

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Year:  1971        PMID： 4995463     DOI： 10.1126/science.172.3984.727

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  10 in total

Review 1.  Regulation of galactose metabolism: implications for therapy.

Authors:  S Segal; S Rogers
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  Inborn errors of metabolism: principles and their applications.

Authors:  L Pinksy
Journal:  Can Med Assoc J       Date:  1972-03-18       Impact factor: 8.262

3.  Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

Authors:  N C Sun; C C Chang; E H Chu
Journal:  Proc Natl Acad Sci U S A       Date:  1974-02       Impact factor: 11.205

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.  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

6.  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

7.  Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes.

Authors:  R I Kelley; D M Feinberg; S Segal
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

8.  Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.

Authors:  J F Kolhouse; C Utley; W A Fenton; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

9.  Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  F Skovby; J Kraus; C Redlich; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1982-01       Impact factor: 11.025

10.  Molecular analysis of 11 galactosemia patients.

Authors:  J K Reichardt
Journal:  Nucleic Acids Res       Date:  1991-12       Impact factor: 16.971
  10 in total

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