TY  - GEN
AU  - Bach,J Elisa
AU  - Wolf,Beat
AU  - Oldenburg,Johannes
AU  - Müller,Clemens R
AU  - Rost,Simone
TI  - Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene
SN  - 2567-689X
PY  - 2016///0712
KW  - Alternative Splicing
KW  - Computational Biology
KW  - DNA Mutational Analysis
KW  - methods
KW  - Factor VIII
KW  - genetics
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Haplotypes
KW  - Hemophilia A
KW  - blood
KW  - Heredity
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Introns
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Predictive Value of Tests
KW  - RNA, Messenger
KW  - Severity of Illness Index
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1160/TH14-12-1011
ER  -