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exon 4
Items for "exon 4"
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
00/0000 | Thrombosis and Haemostasis, SchattauerAnalysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly
Two families with factor X(FX)-Riyadh have been identified (one of them related to the originally reported family)...
Keywords: Prothrombin time,partial thromboplastin time,factor X-Riyadh, exon 4, mutation
04/2007 | Thrombosis and Haemostasis, Schattauer