F8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project

BACKGROUND: Hemophilia A and B are caused by variants in the factor (F) VIII or FIX gene. Selective reporting may influence the distribution of variants reported in genetic databases. OBJECTIVES: To compare the spectrum of F8 and F9 variants in an international population-based pediatric cohort (Ped...

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Detalles Bibliográficos
Autores principales: Labarque, Veerle, Mancuso, Maria Elisa, Kartal-Kaess, Mutlu, Ljung, Rolf, Mikkelsen, Torben S., Andersson, Nadine G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9926204/
https://www.ncbi.nlm.nih.gov/pubmed/36798899
http://dx.doi.org/10.1016/j.rpth.2023.100036

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