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alleles
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Ing. Miroslav Janošík
External person at First Faculty of Medicine
16 publications
Publications
publication
Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria
2004 |
First Faculty of Medicine
publication
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
First Faculty of Medicine
publication
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
2001 |
First Faculty of Medicine
publication
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223+37 de199
1997 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate
2015 |
First Faculty of Medicine
publication
Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocystinuria
2004 |
First Faculty of Medicine
publication
The cystathionine beta-synthase (CBS) mutation c. 1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
Faculty of Physical Education and Sport
publication
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisae
2002 |
First Faculty of Medicine
publication
High Homocysteine and Thrombosis Without Connective Tissue
2002 |
First Faculty of Medicine
publication
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisae
2002 |
Faculty of Physical Education and Sport
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