Sequence variation data ofF8andF9genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia
Author:
Affiliation:
1. Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
2. Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Korea.
Publisher
The Korean Society of Hematology
Subject
Hematology
Link
https://synapse.koreamed.org/pdf/10.5045/br.2013.48.3.206
Reference18 articles.
1. GeneReviews: Hemophilia B. Seattle, WA. University of Washington. 2011. Accessed February 25, 2013. at http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hemo-b
2. GeneReviews: Hemophilia A. Seattle, WA. University of Washington. 2011. Accessed February 25, 2013. at http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hemo-a
3. dbSNP Short genetic variations. The NCBI Single Nucleotide Polymorphism database. Bethesda, MD. NCBI. 2012. Accessed February 25, 2013. at http://www.ncbi.nlm.nih.gov/SNP/
4. A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels
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1. Novel Mutations Resulting in a Moderate to Severe Phenotypic Manifestation of Hemophilia A in a Female;Journal of Pediatric Hematology/Oncology;2017-10
2. Personalized medicine and blood disorders;Personalized Medicine;2016-11
3. Human coagulation factor VIII domain-specific recombinant polypeptide expression;Blood Research;2015
4. Haemophilia;Radiopaedia.org;2010-04-11
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