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