| 000 | 01711 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250514204403.0 | ||
| 264 | 0 | _c20050804 | |
| 008 | 200508s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2004.021121 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aYamamoto, K | |
| 245 | 0 | 0 |
_aIdentification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cOct 2004 |
||
| 300 |
_a763-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHistiocytosis, Non-Langerhans-Cell _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntrons _xgenetics |
| 650 | 0 | 4 | _aJapan |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xdeficiency |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aT-Lymphocytes, Cytotoxic _ximmunology |
| 700 | 1 | _aIshii, E | |
| 700 | 1 | _aSako, M | |
| 700 | 1 | _aOhga, S | |
| 700 | 1 | _aFuruno, K | |
| 700 | 1 | _aSuzuki, N | |
| 700 | 1 | _aUeda, I | |
| 700 | 1 | _aImayoshi, M | |
| 700 | 1 | _aYamamoto, S | |
| 700 | 1 | _aMorimoto, A | |
| 700 | 1 | _aTakada, H | |
| 700 | 1 | _aHara, T | |
| 700 | 1 | _aImashuku, S | |
| 700 | 1 | _aSasazuki, T | |
| 700 | 1 | _aYasukawa, M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 41 _gno. 10 _gp. 763-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2004.021121 _zAvailable from publisher's website |
| 999 |
_c15157744 _d15157744 |
||