| 000 | 00941 a2200289 4500 | ||
|---|---|---|---|
| 005 | 20250517010831.0 | ||
| 264 | 0 | _c20150825 | |
| 008 | 201508s 0 0 eng d | ||
| 022 | _a2542-5641 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLi, Qian | |
| 245 | 0 | 0 |
_aA novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. _h[electronic resource] |
| 260 |
_bChinese medical journal _c2014 |
||
| 300 |
_a4190-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aBardet-Biedl Syndrome _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMicrotubule-Associated Proteins |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 700 | 1 | _aZhang, Yongpeng | |
| 700 | 1 | _aJia, Liyun | |
| 700 | 1 | _aPeng, Xiaoyan | |
| 773 | 0 |
_tChinese medical journal _gvol. 127 _gno. 24 _gp. 4190-6 |
|
| 999 |
_c24481898 _d24481898 |
||