| 000 | 01427 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250518080732.0 | ||
| 264 | 0 | _c20200113 | |
| 008 | 202001s 0 0 chi d | ||
| 022 | _a1003-9406 | ||
| 024 | 7 |
_a10.3760/cma.j.issn.1003-9406.2020.01.005 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLiu, Hongyan | |
| 245 | 0 | 0 |
_a[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene]. _h[electronic resource] |
| 260 |
_bZhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics _cJan 2020 |
||
| 300 |
_a17-20 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPlasmids |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 |
_aSpectrin _xgenetics |
| 650 | 0 | 4 |
_aSpherocytosis, Hereditary _xgenetics |
| 650 | 0 | 4 | _aTransfection |
| 700 | 1 | _aHuang, Jia | |
| 700 | 1 | _aJiang, Yinghai | |
| 700 | 1 | _aGuo, Liangjie | |
| 700 | 1 | _aXiao, Hai | |
| 700 | 1 | _aWang, Hongdan | |
| 773 | 0 |
_tZhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics _gvol. 37 _gno. 1 _gp. 17-20 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.3760/cma.j.issn.1003-9406.2020.01.005 _zAvailable from publisher's website |
| 999 |
_c30504184 _d30504184 |
||