Items for "haemophilia B"

Severe haemophilia B due to a 6 kb factor IX gene deletion including exon 4: Non-homologous recombination associated with a shortened transcript from whole blood

In genotyping a severe hemophilia B subject, exons 13 and 58 were normal. Exon 4 did not amplify, suggesting a partial gene deletion...

Keywords: Deletion breakpoints, ectopic mRNA, exon 4, factor IX gene, haemophilia B