| 000 | 01401 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250516052227.0 | ||
| 264 | 0 | _c20111026 | |
| 008 | 201110s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/1471-2350-12-109 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aThoms, Sven | |
| 245 | 0 | 0 |
_aCharacterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. _h[electronic resource] |
| 260 |
_bBMC medical genetics _cAug 2011 |
||
| 300 |
_a109 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _a5' Untranslated Regions |
| 650 | 0 | 4 | _aATPases Associated with Diverse Cellular Activities |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 650 | 0 | 4 | _aPromoter Regions, Genetic |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSurvival Analysis |
| 650 | 0 | 4 |
_aZellweger Syndrome _xgenetics |
| 700 | 1 | _aGrønborg, Sabine | |
| 700 | 1 | _aRabenau, Jana | |
| 700 | 1 | _aOhlenbusch, Andreas | |
| 700 | 1 | _aRosewich, Hendrik | |
| 700 | 1 | _aGärtner, Jutta | |
| 773 | 0 |
_tBMC medical genetics _gvol. 12 _gp. 109 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/1471-2350-12-109 _zAvailable from publisher's website |
| 999 |
_c21090098 _d21090098 |
||