| 000 | 01193 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250518072944.0 | ||
| 264 | 0 | _c20200220 | |
| 008 | 202002s 0 0 chi d | ||
| 022 | _a0578-1310 | ||
| 024 | 7 |
_a10.3760/cma.j.issn.0578-1310.2019.12.015 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWang, M | |
| 245 | 0 | 0 |
_a[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome]. _h[electronic resource] |
| 260 |
_bZhonghua er ke za zhi = Chinese journal of pediatrics _c12 2019 |
||
| 300 |
_a963-965 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aChediak-Higashi Syndrome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aVesicular Transport Proteins _xgenetics |
| 700 | 1 | _aQu, L J | |
| 700 | 1 | _aWang, J | |
| 700 | 1 | _aChen, T P | |
| 700 | 1 | _aLi, Y | |
| 700 | 1 | _aXu, Z | |
| 700 | 1 | _aCheng, J | |
| 700 | 1 | _aWang, C J | |
| 700 | 1 | _aGao, S | |
| 700 | 1 | _aLu, Y J | |
| 773 | 0 |
_tZhonghua er ke za zhi = Chinese journal of pediatrics _gvol. 57 _gno. 12 _gp. 963-965 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.3760/cma.j.issn.0578-1310.2019.12.015 _zAvailable from publisher's website |
| 999 |
_c30379842 _d30379842 |
||