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• W2029349579 abstract "One form of the inherited, X-linked, bleeding disorder, hemophilia B, resolves after puberty. Mutations at -20 and -26 in the clotting factor IX promoter impair transcription by disrupting the binding site for the liver-enriched transcription factor LF-A1/HNF4. The -26 but not the -20 mutation also disrupts an androgen-responsive element, which overlaps the LF-A1/HNF4 site. This explains the improvement seen in patients with the -20 mutation and the failure of the -26 patient to recover." @default.
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• W2029349579 date "1992-07-17" @default.
• W2029349579 modified "2023-10-12" @default.
• W2029349579 title "Recovery from Hemophilia B Leyden: An Androgen-Responsive Element in the Factor IX Promoter" @default.
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• W2029349579 doi "https://doi.org/10.1126/science.1631558" @default.
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