Publications
- Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties2009 | First Faculty of Medicine
- Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis2009 | First Faculty of Medicine
- Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria2009 | First Faculty of Medicine
- Lichen sclerosus et atrophicus-like skin lesions in a patient carrying a novel hydroxymethylbilane synthase mutation2010 | First Faculty of Medicine
- Gene symbol: HMBS. Disease: Porphyria, acute intermittent2008 | First Faculty of Medicine
- Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria2008 | First Faculty of Medicine
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