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Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia
BACKGROUND: The F8 and F9 genes encode for coagulation factor VIII (FVIII) and FIX, respectively, and mutations in these genes are the genetic basis of hemophilia A/B. To determine whether a sequence variation in F8/F9 is a disease-causing mutation, frequency data from a control population is needed...
Autores principales: | Seo, Ja Young, Jang, Mi-Ae, Kim, Hee-Jung, Lee, Ki-O, Kim, Sun-Hee, Kim, Hee-Jin |
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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
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3786281/ https://www.ncbi.nlm.nih.gov/pubmed/24086941 http://dx.doi.org/10.5045/br.2013.48.3.206 |
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