| 000 | 01388 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515011804.0 | ||
| 264 | 0 | _c20060530 | |
| 008 | 200605s 0 0 eng d | ||
| 022 | _a1096-7192 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2005.10.015 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVuillaumier-Barrot, Sandrine | |
| 245 | 0 | 0 |
_aPMM2 intronic branch-site mutations in CDG-Ia. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cApr 2006 |
||
| 300 |
_a337-40 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xgenetics |
| 650 | 0 | 4 | _aConsensus Sequence |
| 650 | 0 | 4 | _aGlycosylation |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntrons |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPhosphotransferases (Phosphomutases) _xdeficiency |
| 650 | 0 | 4 | _aRNA Splicing |
| 700 | 1 | _aLe Bizec, Christiane | |
| 700 | 1 | _aDe Lonlay, Pascale | |
| 700 | 1 | _aMadinier-Chappat, Nathalie | |
| 700 | 1 | _aBarnier, Anne | |
| 700 | 1 | _aDupré, Thierry | |
| 700 | 1 | _aDurand, Geneviève | |
| 700 | 1 | _aSeta, Nathalie | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 87 _gno. 4 _gp. 337-40 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2005.10.015 _zAvailable from publisher's website |
| 999 |
_c15994719 _d15994719 |
||