| 000 | 01623 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250515203251.0 | ||
| 264 | 0 | _c20100525 | |
| 008 | 201005s 0 0 eng d | ||
| 022 | _a1435-232X | ||
| 024 | 7 |
_a10.1038/jhg.2009.132 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCostrop, Laura M F | |
| 245 | 0 | 0 |
_aNovel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. _h[electronic resource] |
| 260 |
_bJournal of human genetics _cFeb 2010 |
||
| 300 |
_a112-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
| 650 | 0 | 4 |
_aGenomic Instability _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aINDEL Mutation _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMultidrug Resistance-Associated Proteins _xgenetics |
| 650 | 0 | 4 | _aNucleic Acid Amplification Techniques |
| 650 | 0 | 4 |
_aPseudoxanthoma Elasticum _xgenetics |
| 650 | 0 | 4 |
_aWhite People _xgenetics |
| 700 | 1 | _aVanakker, Olivier O M | |
| 700 | 1 | _aVan Laer, Lut | |
| 700 | 1 | _aLe Saux, Olivier | |
| 700 | 1 | _aMartin, Ludovic | |
| 700 | 1 | _aChassaing, Nicolas | |
| 700 | 1 | _aGuerra, Deanna | |
| 700 | 1 | _aPasquali-Ronchetti, Ivonne | |
| 700 | 1 | _aCoucke, Paul J | |
| 700 | 1 | _aDe Paepe, Anne | |
| 773 | 0 |
_tJournal of human genetics _gvol. 55 _gno. 2 _gp. 112-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/jhg.2009.132 _zAvailable from publisher's website |
| 999 |
_c19453480 _d19453480 |
||