| 000 | 01091 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250515030415.0 | ||
| 264 | 0 | _c20061207 | |
| 008 | 200612s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 024 | 7 |
_a10.1007/s00439-006-0179-0 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVillani, G R D | |
| 245 | 0 | 0 |
_aGene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome). _h[electronic resource] |
| 260 |
_bHuman genetics _cJul 2006 |
||
| 300 |
_a682 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aGlycoproteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMucopolysaccharidosis II _xgenetics |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aPontarelli, G | |
| 700 | 1 | _aKotroni, G | |
| 700 | 1 | _aParenti, G | |
| 700 | 1 | _aSibilio, M | |
| 700 | 1 | _aAndria, G | |
| 700 | 1 | _aDi Natale, P | |
| 773 | 0 |
_tHuman genetics _gvol. 119 _gno. 6 _gp. 682 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00439-006-0179-0 _zAvailable from publisher's website |
| 999 |
_c16335711 _d16335711 |
||