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hydroxymethylbilane synthase gene
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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
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis
2009 |
First Faculty of Medicine
publication
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis
2009 |
Publication without faculty affiliation
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
Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
2009 |
Publication without faculty affiliation
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