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functional analysis
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Ing. Miroslav Janošík
Externí osoba na 1. lékařská fakulta
16 publikací
Publikace
publication
Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocystinuria
2004 |
1. lékařská fakulta
publication
Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria
2004 |
1. lékařská fakulta
publication
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate
2015 |
1. lékařská fakulta
publication
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
1. lékařská fakulta
publication
The cystathionine beta-synthase (CBS) mutation c. 1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
Fakulta tělesné výchovy a sportu
publication
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisae
2002 |
1. lékařská fakulta
publication
High Homocysteine and Thrombosis Without Connective Tissue
2002 |
1. lékařská fakulta
publication
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisae
2002 |
Fakulta tělesné výchovy a sportu
publication
High Homocysteine and Thrombosis Without Connective Tissue
2002 |
Fakulta tělesné výchovy a sportu
publication
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
2001 |
1. lékařská fakulta
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