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A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency

Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder most commonly found in Ashkenazi and Iraqi Jews, but it is also found in other ethnic groups. It is a trauma or surgery-related bleeding disorder, but spontaneous bleeding is rarely seen. The clinical manifestation of blee...

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Detalles Bibliográficos
Autores principales: Lee, Jong Ho, Cho, Hee Soon, Hyun, Myung Soo, Kim, Hwa-Young, Kim, Hee-Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190010/
https://www.ncbi.nlm.nih.gov/pubmed/22016685
http://dx.doi.org/10.3343/kjlm.2011.31.4.290

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