| 000 | 01133 a2200337 4500 | ||
|---|---|---|---|
| 005 | 20250517184003.0 | ||
| 264 | 0 | _c20180907 | |
| 008 | 201809s 0 0 eng d | ||
| 022 | _a1563-5279 | ||
| 024 | 7 |
_a10.1080/00207454.2017.1403439 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWang, Cui | |
| 245 | 0 | 0 |
_aNovel compound heterozygous mutations causing Kufs disease type B. _h[electronic resource] |
| 260 |
_bThe International journal of neuroscience _cJun 2018 |
||
| 300 |
_a573-576 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCathepsin F _xgenetics |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNeuronal Ceroid-Lipofuscinoses _xdiagnosis |
| 700 | 1 | _aXu, Hongliang | |
| 700 | 1 | _aYuan, Yun | |
| 700 | 1 | _aLian, Yajun | |
| 700 | 1 | _aXie, Nanchang | |
| 700 | 1 | _aMing, Liang | |
| 773 | 0 |
_tThe International journal of neuroscience _gvol. 128 _gno. 6 _gp. 573-576 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1080/00207454.2017.1403439 _zAvailable from publisher's website |
| 999 |
_c27771006 _d27771006 |
||