Literature DB >> 7573066

Mutations in galactosemia.

J K Reichardt.   

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Year:  1995        PMID： 7573066      PMCID： PMC1801484     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  7 in total

1.  Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

Authors:  J K Reichardt; J W Belmont; H L Levy; S L Woo
Journal:  Genomics       Date:  1992-03       Impact factor: 5.736

2.  Molecular studies on galactose 1 phosphate uridylyl transferase from normal and mutant subjects. An immunological approach.

Authors:  J Banroques; F Schapira; C Grégori; J C Dreyfus
Journal:  Ann Hum Genet       Date:  1983-07       Impact factor: 1.670

3.  Molecular analysis of 11 galactosemia patients.

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

4.  Biochemical and molecular studies of 132 patients with galactosemia.

Authors:  W G Ng; Y K Xu; F R Kaufman; G N Donnell; J Wolff; R J Allen; S Koritala; J K Reichardt
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

5.  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

6.  Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.

Authors:  J L Fridovich-Keil; S D Langley; L A Mazur; J C Lennon; P P Dembure; J L Elsas
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

7.  Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Authors:  L J Elsas; S Langley; E Steele; J Evinger; J L Fridovich-Keil; A Brown; R Singh; P Fernhoff; L N Hjelm; P P Dembure
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
  7 in total

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