| 000 | 01655 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517012624.0 | ||
| 264 | 0 | _c20150410 | |
| 008 | 201504s 0 0 eng d | ||
| 022 | _a1879-0038 | ||
| 024 | 7 |
_a10.1016/j.gene.2015.01.013 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aViggiano, E | |
| 245 | 0 | 0 |
_aClinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. _h[electronic resource] |
| 260 |
_bGene _cApr 2015 |
||
| 300 |
_a112-8 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 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGalactosemias _xdiagnosis |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aNeonatal Screening |
| 650 | 0 | 4 |
_aUDPglucose-Hexose-1-Phosphate Uridylyltransferase _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aMarabotti, A | |
| 700 | 1 | _aBurlina, A P | |
| 700 | 1 | _aCazzorla, C | |
| 700 | 1 | _aD'Apice, M R | |
| 700 | 1 | _aGiordano, L | |
| 700 | 1 | _aFasan, I | |
| 700 | 1 | _aNovelli, G | |
| 700 | 1 | _aFacchiano, A | |
| 700 | 1 | _aBurlina, A B | |
| 773 | 0 |
_tGene _gvol. 559 _gno. 2 _gp. 112-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.gene.2015.01.013 _zAvailable from publisher's website |
| 999 |
_c24537814 _d24537814 |
||