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 |