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missense mutations
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Mgr. Markéta Čapková Ph.D.
External person at First Faculty of Medicine
18 publications
Publications
publication
A Novel Missense Mutation 574C-T in SURF1 Gene - Biochemical and Molecular Studies in Seven Children with Leigh Disease
2002 |
First Faculty of Medicine
publication
A Novel Missense Mutation 574C-T in SURF1 Gene - Biochemical and Molecular Studies in Seven Children with Leigh Disease
2002 |
Faculty of Physical Education and Sport
publication
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome
2003 |
First Faculty of Medicine
publication
Genetic Defects of Cytochrome c Oxidase Assembly
2003 |
First Faculty of Medicine
publication
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome
2003 |
Faculty of Physical Education and Sport
publication
Genetic Defects of Cytochrome c Oxidase Assembly
2003 |
Faculty of Physical Education and Sport
publication
Activities of cytochrome c oxidase and citrate synthase in lymphocytes of obese and normal-weight subjects
2002 |
First Faculty of Medicine
publication
Impairments of the Mitochondrial Energetic Metabolism in Patients with Kearns-Sayre´s Syndrome
2002 |
First Faculty of Medicine
publication
Hepatic Failure after Valproic Acid Administration in an Infant with Cytochrome C Oxidase
2002 |
First Faculty of Medicine
publication
Activities of cytochrome c oxidase and citrate synthase in lymphocytes of obese and normal-weight subjects
2002 |
Faculty of Physical Education and Sport
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