| 000 | 00879 a2200289 4500 | ||
|---|---|---|---|
| 005 | 20250515204308.0 | ||
| 264 | 0 | _c20100217 | |
| 008 | 201002s 0 0 eng d | ||
| 022 | _a1432-1203 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNiu, Dau-Ming | |
| 245 | 0 | 0 |
_aNovel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. _h[electronic resource] |
| 260 |
_bHuman genetics _cJan 2010 |
||
| 300 |
_a122 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aCodon _xgenetics |
| 650 | 0 | 4 |
_aFabry Disease _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aalpha-Galactosidase _xblood |
| 700 | 1 | _aLin, Hsiang-Yu | |
| 700 | 1 | _aChong, Kah-Wai | |
| 700 | 1 | _aHsu, Ju-Hui | |
| 700 | 1 | _aYu, Hsiao-Chi | |
| 700 | 1 | _aHuang, Cheng-Hung | |
| 773 | 0 |
_tHuman genetics _gvol. 127 _gno. 1 _gp. 122 |
|
| 999 |
_c19483367 _d19483367 |
||