| 000 | 01748 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250516110851.0 | ||
| 264 | 0 | _c20130327 | |
| 008 | 201303s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2012.07.025 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBoutron, Audrey | |
| 245 | 0 | 0 |
_aMutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cNov 2012 |
||
| 300 |
_a438-47 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFrance _xepidemiology |
| 650 | 0 | 4 |
_aGalactosemias _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aIntrons |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Docking Simulation |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Stability |
| 650 | 0 | 4 |
_aProtein Subunits _xdeficiency |
| 650 | 0 | 4 |
_aUTP-Hexose-1-Phosphate Uridylyltransferase _xdeficiency |
| 700 | 1 | _aMarabotti, Anna | |
| 700 | 1 | _aFacchiano, Angelo | |
| 700 | 1 | _aCheillan, David | |
| 700 | 1 | _aZater, Mokhtar | |
| 700 | 1 | _aOliveira, Christophe | |
| 700 | 1 | _aCosta, Catherine | |
| 700 | 1 | _aLabrune, Philippe | |
| 700 | 1 | _aBrivet, Michèle | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 107 _gno. 3 _gp. 438-47 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2012.07.025 _zAvailable from publisher's website |
| 999 |
_c22073375 _d22073375 |
||