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Article

Somatic mosaicism and compound heterozygosity in female hemophilia B.

Blood - 15 Aug 2000

Costa J M, Vidaud D, Laurendeau I, Vidaud M, Fressinaud E, Moisan J P, David A, Meyer D, Lavergne J M

Abstract excerpt

Sequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5' splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one. The presence of dysfunctional antigen in the latter strongly suggested that these mutations are in trans. Neither mutation was found in leukocyte DNA...

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PMID: 10942410

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