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missense mutations
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Mgr. Dana Douděrová Ph.D.
External person at First Faculty of Medicine
6 publications
Publications
publication
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria
2009 |
First Faculty of Medicine
publication
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria
2008 |
First Faculty of Medicine
publication
Lichen sclerosus et atrophicus-like skin lesions in a patient carrying a novel hydroxymethylbilane synthase mutation
2010 |
First Faculty of Medicine
publication
Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
2009 |
First Faculty of Medicine
publication
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis
2009 |
First Faculty of Medicine
publication
Gene symbol: HMBS. Disease: Porphyria, acute intermittent
2008 |
First Faculty of Medicine
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