| 000 | 01326 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250518020422.0 | ||
| 264 | 0 | _c20190820 | |
| 008 | 201908s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/s12881-019-0753-7 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGe, Ting | |
| 245 | 0 | 0 |
_aNovel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease. _h[electronic resource] |
| 260 |
_bBMC medical genetics _c01 2019 |
||
| 300 |
_a18 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChina |
| 650 | 0 | 4 |
_aCholestasis, Intrahepatic _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 |
_aHigh-Throughput Nucleotide Sequencing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMaternal Inheritance |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPaternal Inheritance |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 |
_aZonula Occludens-2 Protein _xgenetics |
| 700 | 1 | _aZhang, Xinyue | |
| 700 | 1 | _aXiao, Yongmei | |
| 700 | 1 | _aWang, Yizhong | |
| 700 | 1 | _aZhang, Ting | |
| 773 | 0 |
_tBMC medical genetics _gvol. 20 _gno. 1 _gp. 18 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s12881-019-0753-7 _zAvailable from publisher's website |
| 999 |
_c29269426 _d29269426 |
||