| 000 | 01230 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250516033142.0 | ||
| 264 | 0 | _c20110816 | |
| 008 | 201108s 0 0 eng d | ||
| 022 | _a1932-6203 | ||
| 024 | 7 |
_a10.1371/journal.pone.0018599 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSkjørringe, Tina | |
| 245 | 0 | 0 |
_aSplice site mutations in the ATP7A gene. _h[electronic resource] |
| 260 |
_bPloS one _cApr 2011 |
||
| 300 |
_ae18599 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAdenosine Triphosphatases _xgenetics |
| 650 | 0 | 4 |
_aCation Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aComputational Biology |
| 650 | 0 | 4 | _aCopper-Transporting ATPases |
| 650 | 0 | 4 |
_aFibroblasts _xenzymology |
| 650 | 0 | 4 | _aGene Expression Regulation, Enzymologic |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMenkes Kinky Hair Syndrome _xenzymology |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
| 700 | 1 | _aTümer, Zeynep | |
| 700 | 1 | _aMøller, Lisbeth Birk | |
| 773 | 0 |
_tPloS one _gvol. 6 _gno. 4 _gp. e18599 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1371/journal.pone.0018599 _zAvailable from publisher's website |
| 999 |
_c20760662 _d20760662 |
||