Article
The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation.
Molecular genetics & genomic medicine - 1 Sept 2024
Munkhuu Purevdorj, Bazarragchaa Munkhtsetseg, Ichinkhorloo Purevdorj, Yoo Ki-Young, Ayush Enkh-Amar, Batjargal Ochbadrakh, Namjil Erdenebayar, Jav Sarantuya, Purevdorj Erkhembulgan, Lkhagvasuren Sodnomtsogt
Abstract excerpt
BACKGROUND: This study aimed to conduct molecular diagnostics among individuals with hemophilia B (HB) and carriers of hemophilia in Mongolia. METHODS: Eight 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....
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