Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene.
Bach, J Elisa
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
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