Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene. [electronic resource]
Producer: 20160712Description: 757-67 p. digitalISSN:- 2567-689X
- 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
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Publication Type: Journal Article
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