Heteroduplex analysis in hemophilia B: detection of two novel factor IX gene mutations

American Journal of Hematology
M C DriscollM W Hilgartner

Abstract

Heteroduplex analysis of polymerase chain reaction (PCR)-amplified factor IX (FIX) sequences in eight hemophilia B pedigrees localized the causative hemophilia mutation to a single exon in each case. Subsequent PCR-based direct DNA sequence analysis identified two novel FIX mutations and six recurrent mutations. Three of the eight pedigrees represent sporadic hemophilia B, and direct mutation analysis facilitated hemophilia carrier diagnosis in each case.

References

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Citations

Dec 1, 2001·Expert Opinion on Biological Therapy·E WangF M Marincola
Feb 7, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·M C PanelliF M Marincola
Jul 24, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·G A OhnmachtF M Marincola

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