000 01558 a2200469 4500
005 20250517031736.0
264 0 _c20160712
008 201607s 0 0 eng d
022 _a2567-689X
024 7 _a10.1160/TH14-12-1011
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBach, J Elisa
245 0 0 _aIdentification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene.
_h[electronic resource]
260 _bThrombosis and haemostasis
_cOct 2015
300 _a757-67 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aAlternative Splicing
650 0 4 _aComputational Biology
650 0 4 _aDNA Mutational Analysis
_xmethods
650 0 4 _aFactor VIII
_xgenetics
650 0 4 _aGenetic Association Studies
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aHaplotypes
650 0 4 _aHemophilia A
_xblood
650 0 4 _aHeredity
650 0 4 _aHigh-Throughput Nucleotide Sequencing
650 0 4 _aHumans
650 0 4 _aIntrons
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aPredictive Value of Tests
650 0 4 _aRNA, Messenger
_xgenetics
650 0 4 _aSeverity of Illness Index
700 1 _aWolf, Beat
700 1 _aOldenburg, Johannes
700 1 _aMüller, Clemens R
700 1 _aRost, Simone
773 0 _tThrombosis and haemostasis
_gvol. 114
_gno. 4
_gp. 757-67
856 4 0 _uhttps://doi.org/10.1160/TH14-12-1011
_zAvailable from publisher's website
999 _c24875253
_d24875253