Literature DB >> 8739969

Frequency distribution of the Q188R mutation in the Irish galactosaemic population.

M Murphy1, D Sexton, C O'Neill, D T Croke, P D Mayne, E R Naughten.   

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Year:  1996        PMID： 8739969     DOI： 10.1007/bf01799433

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  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.  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

3.  The human galactose-1-phosphate uridyltransferase gene.

Authors:  N D Leslie; E B Immerman; J E Flach; M Florez; J L Fridovich-Keil; L J Elsas
Journal:  Genomics       Date:  1992-10       Impact factor: 5.736

Review 4.  Genetic basis of galactosemia.

Authors:  J K Reichardt
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878
  4 in total
  1 in total

1.  Genetic archaeology and the origins of the Irish population.

Authors:  D T Croke
Journal:  Ir J Med Sci       Date:  2000 Oct-Dec       Impact factor: 1.568
  1 in total

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