| 000 | 01503 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514220609.0 | ||
| 264 | 0 | _c20050401 | |
| 008 | 200504s 0 0 eng d | ||
| 022 | _a1090-6576 | ||
| 024 | 7 |
_a10.1089/gte.2004.8.286 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPoulsen, Lena | |
| 245 | 0 | 0 |
_aX-linked Menkes disease: first documented report of germ-line mosaicism. _h[electronic resource] |
| 260 |
_bGenetic testing _c2004 |
||
| 300 |
_a286-91 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdenosine Triphosphatases _xgenetics |
| 650 | 0 | 4 |
_aBiological Transport _xgenetics |
| 650 | 0 | 4 |
_aCation Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 |
_aCopper _xmetabolism |
| 650 | 0 | 4 | _aCopper-Transporting ATPases |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xphysiology |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGerm-Line Mutation |
| 650 | 0 | 4 |
_aHaplotypes _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMenkes Kinky Hair Syndrome _xgenetics |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aRecombinant Fusion Proteins _xgenetics |
| 700 | 1 | _aMøller, Lisbeth Birk | |
| 700 | 1 | _aPlunkett, Katie | |
| 700 | 1 | _aBelmont, John | |
| 700 | 1 | _aTümer, Zeynep | |
| 700 | 1 | _aHorn, Nina | |
| 773 | 0 |
_tGenetic testing _gvol. 8 _gno. 3 _gp. 286-91 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1089/gte.2004.8.286 _zAvailable from publisher's website |
| 999 |
_c15402097 _d15402097 |
||