| 000 | 02773 a2200853 4500 | ||
|---|---|---|---|
| 005 | 20250517225541.0 | ||
| 264 | 0 | _c20191015 | |
| 008 | 201910s 0 0 eng d | ||
| 022 | _a1573-2592 | ||
| 024 | 7 |
_a10.1007/s10875-018-0527-6 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRosain, Jérémie | |
| 245 | 0 | 0 |
_aA Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency. _h[electronic resource] |
| 260 |
_bJournal of clinical immunology _c07 2018 |
||
| 300 |
_a617-627 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAlu Elements |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aDNA Copy Number Variations |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInterferon-gamma |
| 650 | 0 | 4 |
_aInterleukin-12 Receptor beta 1 Subunit _xdeficiency |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMycobacterium Infections _xdiagnosis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aOleaga-Quintas, Carmen | |
| 700 | 1 | _aDeswarte, Caroline | |
| 700 | 1 | _aVerdin, Hannah | |
| 700 | 1 | _aMarot, Stéphane | |
| 700 | 1 | _aSyridou, Garyfallia | |
| 700 | 1 | _aMansouri, Mahboubeh | |
| 700 | 1 | _aMahdaviani, S Alireza | |
| 700 | 1 | _aVenegas-Montoya, Edna | |
| 700 | 1 | _aTsolia, Maria | |
| 700 | 1 | _aMesdaghi, Mehrnaz | |
| 700 | 1 | _aChernyshova, Liudmyla | |
| 700 | 1 | _aStepanovskiy, Yuriy | |
| 700 | 1 | _aParvaneh, Nima | |
| 700 | 1 | _aMansouri, Davood | |
| 700 | 1 | _aPedraza-Sánchez, Sigifredo | |
| 700 | 1 | _aBondarenko, Anastasia | |
| 700 | 1 | _aEspinosa-Padilla, Sara E | |
| 700 | 1 | _aYamazaki-Nakashimada, Marco A | |
| 700 | 1 | _aNieto-Patlán, Alejandro | |
| 700 | 1 | _aKerner, Gaspard | |
| 700 | 1 | _aLambert, Nathalie | |
| 700 | 1 | _aJacques, Corinne | |
| 700 | 1 | _aCorvilain, Emilie | |
| 700 | 1 | _aMigaud, Mélanie | |
| 700 | 1 | _aGrandin, Virginie | |
| 700 | 1 | _aHerrera, María T | |
| 700 | 1 | _aJabot-Hanin, Fabienne | |
| 700 | 1 | _aBoisson-Dupuis, Stéphanie | |
| 700 | 1 | _aPicard, Capucine | |
| 700 | 1 | _aNitschke, Patrick | |
| 700 | 1 | _aPuel, Anne | |
| 700 | 1 | _aTores, Frederic | |
| 700 | 1 | _aAbel, Laurent | |
| 700 | 1 | _aBlancas-Galicia, Lizbeth | |
| 700 | 1 | _aDe Baere, Elfride | |
| 700 | 1 | _aBole-Feysot, Christine | |
| 700 | 1 | _aCasanova, Jean-Laurent | |
| 700 | 1 | _aBustamante, Jacinta | |
| 773 | 0 |
_tJournal of clinical immunology _gvol. 38 _gno. 5 _gp. 617-627 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10875-018-0527-6 _zAvailable from publisher's website |
| 999 |
_c28621115 _d28621115 |
||