| 000 | 01151 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250516104839.0 | ||
| 264 | 0 | _c20130102 | |
| 008 | 201301s 0 0 eng d | ||
| 022 | _a2542-5641 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aZhang, Da | |
| 245 | 0 | 0 |
_aExome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease. _h[electronic resource] |
| 260 |
_bChinese medical journal _cJul 2012 |
||
| 300 |
_a2482-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPolycystic Kidney, Autosomal Recessive _xgenetics |
| 650 | 0 | 4 |
_aReceptors, Cell Surface _xgenetics |
| 700 | 1 | _aLu, Lin | |
| 700 | 1 | _aYang, Hong-Bo | |
| 700 | 1 | _aLi, Mei | |
| 700 | 1 | _aSun, Hao | |
| 700 | 1 | _aZeng, Zheng-Pei | |
| 700 | 1 | _aLi, Xin-Ping | |
| 700 | 1 | _aXia, Wei-Bo | |
| 700 | 1 | _aXing, Xiao-Ping | |
| 773 | 0 |
_tChinese medical journal _gvol. 125 _gno. 14 _gp. 2482-6 |
|
| 999 |
_c22015824 _d22015824 |
||