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CBS
Person
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Person
Publication
Programmes
Ing. Miroslav Janošík
External person at First Faculty of Medicine
16 publications
Publications
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
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
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
High Homocysteine and Thrombosis Without Connective Tissue
2002 |
First Faculty of Medicine
publication
High Homocysteine and Thrombosis Without Connective Tissue
2002 |
Faculty of Physical Education and Sport
publication
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
2001 |
First Faculty of Medicine
publication
Cystathionine (-Synthase Mutations in Homocystinuria. Mutation update.
1999 |
Faculty of Physical Education and Sport
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
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