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Search for publications relevant for "Antley-Bixler syndrome"
Antley-Bixler syndrome
Publication
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Person
Publication
Programmes
publication
Antley-Bixler syndrom or POR deficiency?
2008 |
First Faculty of Medicine
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Diminished FAD Binding in the Y459H and V492E Antley-Bixler Syndrome Mutants of Human Cytochrome P450 Reductase
2006 |
First Faculty of Medicine
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Diminished FAD Binding in the Y459H and V492E Antley-Bixler Syndrome Mutants of Human Cytochrome P450 Reductase
2006 |
Faculty of Physical Education and Sport
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Cytochrom P450 reduktáza: Strukturálně-funkční studie, molekulární patologie Antley-Bixlerova syndromu
Publication without faculty affiliation
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FAD-deficient CYPOR results from the Antley-Bixler syndrome mutations Y459H and V492E
Publication without faculty affiliation
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The R457H mutant of human CYPOR cause Antley-Bixler syndrome via altered FAD conformation
Publication without faculty affiliation
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Diminished FAD-binding specificity in human cytochrome P450 oxidoreductase associated with Antley-Bixler syndrome
Publication without faculty affiliation
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Diminished FAD-binding in human cytochrome P450 oxidoreductase associated with Antley-Bixler syndrome mutant Y459H and V492E
Publication without faculty affiliation
publication
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype
2016 |
First Faculty of Medicine
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Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency
2011 |
First Faculty of Medicine
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Mutations of human cytochrome P450 reductase differentially modulate heme oxygenase-1 activity and oligomerization
2011 |
First Faculty of Medicine
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Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations
2012 |
First Faculty of Medicine