that the 30802insA mutation is of no clinical significance and is likely to be a normal variant. Therefore, the )23C>T mutation is the causal mutation in this family.In conclusion, we report a haemophilia B Leyden phenotype associated with the )23C>T promoter mutation of the F9 gene and also demonstrate that the 30802insA mutation of the F9 gene is not associated with lowered F9 levels or haemophilia B and should be regarded as a non-pathogenic variant.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.