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...

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Detalles Bibliográficos
Autores principales: Seo, Ja Young, Jang, Mi-Ae, Kim, Hee-Jung, Lee, Ki-O, Kim, Sun-Hee, Kim, Hee-Jin
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
Materias:
Original Article
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

Internet

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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