000 | 01548 a2200409 4500 | ||
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005 | 20250518020605.0 | ||
264 | 0 | _c20200615 | |
008 | 202006s 0 0 eng d | ||
022 | _a1097-6825 | ||
024 | 7 |
_a10.1016/j.jaci.2018.12.1012 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _ade Jesus, Adriana A | |
245 | 0 | 0 |
_aNovel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. _h[electronic resource] |
260 |
_bThe Journal of allergy and clinical immunology _c05 2019 |
||
300 |
_a1939-1943.e8 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aChaperonins _xgenetics |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aImmunologic Deficiency Syndromes _xgenetics |
650 | 0 | 4 | _aInterferons |
650 | 0 | 4 |
_aMolecular Chaperones _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aProteasome Endopeptidase Complex _xgenetics |
700 | 1 | _aBrehm, Anja | |
700 | 1 | _aVanTries, Rachel | |
700 | 1 | _aPillet, Pascal | |
700 | 1 | _aParentelli, Anne-Sophie | |
700 | 1 | _aMontealegre Sanchez, Gina A | |
700 | 1 | _aDeng, Zuoming | |
700 | 1 | _aPaut, Isabelle Koné | |
700 | 1 | _aGoldbach-Mansky, Raphaela | |
700 | 1 | _aKrüger, Elke | |
773 | 0 |
_tThe Journal of allergy and clinical immunology _gvol. 143 _gno. 5 _gp. 1939-1943.e8 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.jaci.2018.12.1012 _zAvailable from publisher's website |
999 |
_c29275552 _d29275552 |