Novel mutations in factor IX gene from western India with reference to their phenotypic and haplotypic attributes.

Abstract excerpt

BACKGROUND: Hemophilia B (HB) is an X-linked recessively inherited bleeding disorder caused by heterogeneous mutations in the factor IX gene. STUDY DESIGN AND METHODS: We screened for mutations in HB patients using a combination of multiplex polymerase chain reaction, conformation sensitive gel electrophoresis, and DNA sequencing. Phenotypic analysis was performed using 1 stage assay for factor IX: C activity and...

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