| 000 | 01592 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250515110925.0 | ||
| 264 | 0 | _c20080811 | |
| 008 | 200808s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2007.056697 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHuybrechts, S J | |
| 245 | 0 | 0 |
_aIdentification of a novel PEX14 mutation in Zellweger syndrome. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJun 2008 |
||
| 300 |
_a376-83 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aDNA, Intergenic |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunoblotting |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLiver _xultrastructure |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aPeroxisomes _xmetabolism |
| 650 | 0 | 4 |
_aRepressor Proteins _xgenetics |
| 650 | 0 | 4 |
_aZellweger Syndrome _xgenetics |
| 700 | 1 | _aVan Veldhoven, P P | |
| 700 | 1 | _aHoffman, I | |
| 700 | 1 | _aZeevaert, R | |
| 700 | 1 | _ade Vos, R | |
| 700 | 1 | _aDemaerel, P | |
| 700 | 1 | _aBrams, M | |
| 700 | 1 | _aJaeken, J | |
| 700 | 1 | _aFransen, M | |
| 700 | 1 | _aCassiman, D | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 45 _gno. 6 _gp. 376-83 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2007.056697 _zAvailable from publisher's website |
| 999 |
_c17789800 _d17789800 |
||