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- W2312067748 abstract "Hemophilia B Leyden is characterized by low levels of factor IX antigen and activity before the age of 15, whereas after puberty factor IX levels rise at a rate of about 5% per year. A single base substitution (-A----T) at position -20 was identified in the putative promoter of the gene cloned from a patient with hemophilia B Leyden. This nucleotide change was confirmed in a second patient from the same pedigree and was also found in a patient from a second Dutch pedigree with the same hemophilic phenotype. The results indicate that the two Dutch kindreds are related and point to the functional significance of the -20 position for the expression of the human factor IX gene." @default.
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- W2312067748 date "1988-09-01" @default.
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- W2312067748 title "The putative factor IX gene promoter in hemophilia B Leyden" @default.
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- W2312067748 doi "https://doi.org/10.1182/blood.v72.3.1074.bloodjournal7231074" @default.
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