The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation
Purevdorj Munkhuu,
Munkhtsetseg Bazarragchaa,
Purevdorj Ichinkhorloo
et al.
Abstract:BackgroundThis study aimed to conduct molecular diagnostics among individuals with hemophilia B (HB) and carriers of hemophilia in Mongolia.MethodsEight patients (six severe, two mild) with HB and their 12 female relatives were enrolled from eight families. Sanger sequence was performed for mutation identification. The questionnaire survey was conducted to evaluate carrier symptoms in female relatives.ResultsTwo families had a history of HB. A total of five different variants (c.223C > T; c.344A > G; c.4… Show more
Set email alert for when this publication receives citations?
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.