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MTRR
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The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria
2010 |
First Faculty of Medicine
publication
MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic
2011 |
First Faculty of Medicine
publication
5-Fluorouracil-based chemotherapy for colorectal cancer and MTHFR/MTRR genotypes
2011 |
First Faculty of Medicine
publication
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
2003 |
First Faculty of Medicine
publication
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
2003 |
Faculty of Physical Education and Sport
publication
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells
2015 |
First Faculty of Medicine
publication
cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression
2005 |
First Faculty of Medicine
publication
cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression
2005 |
Faculty of Physical Education and Sport
publication
Are haplotypes in a single methotrexate pathway more predictive for response in rheumatoid arthritis than in different pathways?
2018 |
Faculty of Mathematics and Physics, Faculty of Pharmacy in Hradec Králové, Faculty of Medicine in Hradec Králové
publication
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
2015 |
First Faculty of Medicine