| 000 | 01780 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250517160245.0 | ||
| 264 | 0 | _c20171206 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1432-1211 | ||
| 024 | 7 |
_a10.1007/s00251-017-1005-7 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFirtina, Sinem | |
| 245 | 0 | 0 |
_aA novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. _h[electronic resource] |
| 260 |
_bImmunogenetics _c10 2017 |
||
| 300 |
_a653-659 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aB-Lymphocytes _ximmunology |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCD3 Complex _xgenetics |
| 650 | 0 | 4 | _aCell Proliferation |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aKiller Cells, Natural _ximmunology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 |
_aSevere Combined Immunodeficiency _xgenetics |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 |
_aT-Lymphocytes _ximmunology |
| 650 | 0 | 4 | _aTurkey |
| 700 | 1 | _aNg, Yuk Yin | |
| 700 | 1 | _aNg, Ozden Hatirnaz | |
| 700 | 1 | _aNepesov, Serdar | |
| 700 | 1 | _aYesilbas, Osman | |
| 700 | 1 | _aKilercik, Meltem | |
| 700 | 1 | _aBurtecene, Nihan | |
| 700 | 1 | _aCinar, Suzan | |
| 700 | 1 | _aCamcioglu, Yildiz | |
| 700 | 1 | _aOzbek, Ugur | |
| 700 | 1 | _aSayitoglu, Muge | |
| 773 | 0 |
_tImmunogenetics _gvol. 69 _gno. 10 _gp. 653-659 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00251-017-1005-7 _zAvailable from publisher's website |
| 999 |
_c27261132 _d27261132 |
||