| 000 | 01722 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250515081033.0 | ||
| 264 | 0 | _c20071129 | |
| 008 | 200711s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2007.052746 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _ade Bie, P | |
| 245 | 0 | 0 |
_aMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cNov 2007 |
||
| 300 |
_a673-88 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 |
_aAdenosine Triphosphatases _xchemistry |
| 650 | 0 | 4 |
_aAdenosine Triphosphate _xmetabolism |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aCation Transport Proteins _xchemistry |
| 650 | 0 | 4 |
_aCopper _xmetabolism |
| 650 | 0 | 4 | _aCopper-Transporting ATPases |
| 650 | 0 | 4 | _aDisease Models, Animal |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aHepatolenticular Degeneration _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMenkes Kinky Hair Syndrome _xgenetics |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMice, Mutant Strains |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Interaction Mapping |
| 650 | 0 | 4 | _aProtein Structure, Tertiary |
| 650 | 0 | 4 | _aRats |
| 650 | 0 | 4 | _aRats, Inbred LEC |
| 650 | 0 | 4 | _aStructure-Activity Relationship |
| 650 | 0 | 4 | _aZebrafish |
| 700 | 1 | _aMuller, P | |
| 700 | 1 | _aWijmenga, C | |
| 700 | 1 | _aKlomp, L W J | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 44 _gno. 11 _gp. 673-88 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2007.052746 _zAvailable from publisher's website |
| 999 |
_c17247547 _d17247547 |
||