Article
Factors XWenatchee I and II: compound heterozygosity involving two variant proteins.
Biochimica et biophysica acta - 9 Jun 1995
Kim D J, Thompson A R, Nash D R, James H L
Abstract excerpt
Variant factor X in an individual with a mild bleeding tendency was suspected based on deficient procoagulant activity (10-20% of normal) and antigen (30-35% of normal) levels of plasma factor X. Heteroduplex analysis of factor X gene exons indicated heterozygosity for mutations in both exons 6 and 4, confirmed by direct sequencing of the amplified exons. Substitution of C by T at nucleotide position 13,984...
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