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 |