Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene. [electronic resource]
- Thrombosis and haemostasis Oct 2015
- 757-67 p. digital
Publication Type: Journal Article
2567-689X
10.1160/TH14-12-1011 doi
Alternative Splicing Computational Biology DNA Mutational Analysis--methods Factor VIII--genetics Genetic Association Studies Genetic Predisposition to Disease Haplotypes Hemophilia A--blood Heredity High-Throughput Nucleotide Sequencing Humans Introns Male Mutation Pedigree Phenotype Predictive Value of Tests RNA, Messenger--genetics Severity of Illness Index