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Mutation analysis and characterisation of F9 gene in haemophilia-B population of India

BACKGROUND: Hemophilia B (HB) is an X-linked bleeding disorder resulting from coagulation factor IX defects. Over 3,000 pathogenic, HB-associated mutations in the F9 gene have been identified. We aimed to investigate the role of F9 variants in 150 HB patients using sequencing technology. METHODS: F9...

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Detalles Bibliográficos
Autores principales: Kulkarni, Sujayendra, Hegde, Rajat, Hegde, Smita, Kulkarni, Suyamindra S., Hanagvadi, Suresh, Das, Kusal K., Kolagi, Sanjeev, Gai, Pramod B., Bulagouda, Rudragouda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721457/
https://www.ncbi.nlm.nih.gov/pubmed/34880139
http://dx.doi.org/10.5045/br.2021.2021016