| 000 | 00980 a2200265 4500 | ||
|---|---|---|---|
| 005 | 20250517123733.0 | ||
| 264 | 0 | _c20180326 | |
| 008 | 201803s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2016.151 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJaeken, Jaak | |
| 245 | 0 | 0 |
_aClinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c02 2017 |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aGalactosemias _xdiagnosis |
| 650 | 0 | 4 |
_aGalactosyltransferases _xgenetics |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 700 | 1 | _aLefeber, Dirk J | |
| 700 | 1 | _aMatthijs, Gert | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 25 _gno. 2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2016.151 _zAvailable from publisher's website |
| 999 |
_c26589333 _d26589333 |
||