The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation
The novel variants c.187_188del and c.1314_1314delA can cause severe hemophilia B. This study did not observe a significant association between symptoms and carrier status in the five carriers.
Authors
- Purevdorj Ichinkhorloo
- Erdenebayar Namjil
- Munkhtsetseg Bazarragchaa (ORCID: https://orcid.org/0000-0003-4051-0251)
- Erkhembulgan Purevdorj (ORCID: https://orcid.org/0000-0002-0954-0519)
- Sarantuya Jav (ORCID: https://orcid.org/0000-0002-3032-4490)
- Sodnomtsogt Lkhagvasuren
- Enkh‐Amar Ayush
- Ochbadrakh Batjargal
- Ki‐Young Yoo
- Purevdorj Munkhuu (ORCID: https://orcid.org/0000-0002-4259-5087)
Institutions
- Mongolian National University (MN)
- National Center for Communicable Diseases (MN)
- Mongolian National University of Medical Sciences (MN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1002/mgg3.2495
- Primary Topic
- Hemophilia Treatment and Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Mongolian Foundation for Science and Technology