2013
DOI: 10.4149/bll_2013_069
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Prevalence of mutations in thiopurine S-methyltransferase gene among Slovak IBD patients

Abstract: Abstract:Background: Thiopurine S-methyltransferase (TPMT) plays an important role in the metabolism of thiopurines. It has been suggested that TPMT genetic polymorphisms lead to dose-related hematopoietic toxicity. Since there are major ethnic differences in the prevalence of particular TPMT variants, it is important for each country to study their own prevalence in order to estimate the role of TPMT variants-related thiopurines toxicity in population suffering from particular infl ammatory bowel disease (IBD… Show more

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“…This trend has become evident in the past years also in Slovakia (17,18). As a fi rst step in molecular genetic diagnosis of Pompe disease, we use an algorithm with detection of mutation c.-32-13T>G. We have identifi ed this mutation in the fi rst patient in a homozygous form, whereas in the second patient in a heterozygous form.…”
Section: Discussionmentioning
confidence: 99%
“…This trend has become evident in the past years also in Slovakia (17,18). As a fi rst step in molecular genetic diagnosis of Pompe disease, we use an algorithm with detection of mutation c.-32-13T>G. We have identifi ed this mutation in the fi rst patient in a homozygous form, whereas in the second patient in a heterozygous form.…”
Section: Discussionmentioning
confidence: 99%