| 000 | 01244 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250517171803.0 | ||
| 264 | 0 | _c20190910 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2017-104586 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHaijes, Hanneke A | |
| 245 | 0 | 0 |
_aHypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _c02 2018 |
||
| 300 |
_a137-142 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Vesicular Transport _xgenetics |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xetiology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMultiprotein Complexes _xchemistry |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aVesicular Transport Proteins _xgenetics |
| 700 | 1 | _aJaeken, Jaak | |
| 700 | 1 | _aFoulquier, François | |
| 700 | 1 | _avan Hasselt, Peter M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 55 _gno. 2 _gp. 137-142 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2017-104586 _zAvailable from publisher's website |
| 999 |
_c27504669 _d27504669 |
||