| 000 | 01554 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250516034630.0 | ||
| 264 | 0 | _c20111202 | |
| 008 | 201112s 0 0 eng d | ||
| 022 | _a1573-2665 | ||
| 024 | 7 |
_a10.1007/s10545-011-9328-2 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVega, Ana Isabel | |
| 245 | 0 | 0 |
_aExpression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cAug 2011 |
||
| 300 |
_a929-39 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aEnzyme Stability _xgenetics |
| 650 | 0 | 4 | _aGene Expression Profiling |
| 650 | 0 | 4 |
_aGene Expression Regulation, Enzymologic _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMutation, Missense _xphysiology |
| 650 | 0 | 4 |
_aPhosphotransferases (Phosphomutases) _xdeficiency |
| 650 | 0 | 4 | _aProtein Folding |
| 700 | 1 | _aPérez-Cerdá, Celia | |
| 700 | 1 | _aAbia, David | |
| 700 | 1 | _aGámez, Alejandra | |
| 700 | 1 | _aBriones, Paz | |
| 700 | 1 | _aArtuch, Rafael | |
| 700 | 1 | _aDesviat, Lourdes R | |
| 700 | 1 | _aUgarte, Magdalena | |
| 700 | 1 | _aPérez, Belén | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 34 _gno. 4 _gp. 929-39 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-011-9328-2 _zAvailable from publisher's website |
| 999 |
_c20805606 _d20805606 |
||