Literature DB >> 4627742

Human galactose 1-phosphate uridyltransferase. Purification, antibody production, and comparison of the wild type, Duarte variant, and galactosemic gene products.

T A Tedesco.   

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Year:  1972        PMID： 4627742

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


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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.  Applying Genomic Analysis to Newborn Screening.

Authors:  B D Solomon; D E Pineda-Alvarez; K A Bear; J C Mullikin; J P Evans
Journal:  Mol Syndromol       Date:  2012-07-25

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.  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

5.  Biochemical studies of a human low-activity galactose-1-phosphate uridyl transferase variant.

Authors:  W G Ng; F Kline; J Lin; R Koch; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

6.  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

7.  Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

Authors:  T A Tedesco; R Diamond; K G Orkwiszewski; H J Boedecker; C M Croce
Journal:  Proc Natl Acad Sci U S A       Date:  1974-09       Impact factor: 11.205

8.  A molecular approach to galactosemia.

Authors:  L J Elsas; S Langley; E M Paulk; L N Hjelm; P P Dembure
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

9.  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
  9 in total

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