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Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian populationLukač-Bajalo, Jana ...Objectives: To analyze a healthy Slovenian population for the frequency of theclassical galactosemia allele K285N. Design and methodsČDNA was analyzed bymeans of polymerase chain reaction and ... restriction fragment length polymorphism. Results: The allele frequency of the K285N mutation in Slovenianpopulation is 0.29%.Conclusions: The allele frequency of the K285N mutation in Slovenian population is higher than in other Caucasian populations. K285N is one of the most frequent classical galactosemia mutations in the Slovenian population.Source: Clinical biochemistry. - ISSN 0009-9120 (vol. 40, no. 5-6, 2007, str. 414-415)Type of material - article, component partPublish date - 2007Language - englishCOBISS.SI-ID - 2068593
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Database name | Field | Year |
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Lukač-Bajalo, Jana | 03573 |
Karas Kuželički, Nataša | 21459 |
Prodan Žitnik, Irena | 22657 |
Mencej Bedrač, Simona | 24475 |
Battelino, Tadej | 13023 |
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