Article
Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden.
Proceedings of the National Academy of Sciences of the United States of America - 1 Jun 1990
Hirosawa S, Fahner J B, Salier J P, Wu C T, Lovrien E W, Kurachi K
Abstract excerpt
Hemophilia B Leyden is characterized by unusual developmental regulation of factor IX synthesis in affected individuals. One family affected with the hemophilia B Leyden phenotype was found to have a specific single-base mutation (G----A) at nucleotide -6 of the factor IX gene. The mutation site was found in a small region of the 5'-untranslated sequence designated the Leyden-specific region (LS region). This...
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