| 000 | 01626 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250514183641.0 | ||
| 264 | 0 | _c20040507 | |
| 008 | 200405s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2003.015222 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRaas-Rothschild, A | |
| 245 | 0 | 0 |
_aGenomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cApr 2004 |
||
| 300 |
_ae52 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 | _aExons |
| 650 | 0 | 4 | _aGenome, Human |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntrons |
| 650 | 0 | 4 |
_aMucolipidoses _xdiagnosis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aProtein Subunits _xgenetics |
| 650 | 0 | 4 |
_aTransferases (Other Substituted Phosphate Groups) _xgenetics |
| 700 | 1 | _aBargal, R | |
| 700 | 1 | _aGoldman, O | |
| 700 | 1 | _aBen-Asher, E | |
| 700 | 1 | _aGroener, J E M | |
| 700 | 1 | _aToutain, A | |
| 700 | 1 | _aStemmer, E | |
| 700 | 1 | _aBen-Neriah, Z | |
| 700 | 1 | _aFlusser, H | |
| 700 | 1 | _aBeemer, F A | |
| 700 | 1 | _aPenttinen, M | |
| 700 | 1 | _aOlender, T | |
| 700 | 1 | _aRein, A J J T | |
| 700 | 1 | _aBach, G | |
| 700 | 1 | _aZeigler, M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 41 _gno. 4 _gp. e52 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2003.015222 _zAvailable from publisher's website |
| 999 |
_c14776064 _d14776064 |
||