000 01298 a2200361 4500
005 20250516011304.0
264 0 _c20111219
008 201112s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.21388
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aEbberink, Merel S
245 0 0 _aGenetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
_h[electronic resource]
260 _bHuman mutation
_cJan 2011
300 _a59-69 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aCell Line
650 0 4 _aGene Frequency
650 0 4 _aGenetic Complementation Test
_xstatistics & numerical data
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aMutation
650 0 4 _aPHEX Phosphate Regulating Neutral Endopeptidase
_xgenetics
650 0 4 _aPeroxisomal Disorders
_xgenetics
650 0 4 _aZellweger Syndrome
_xgenetics
700 1 _aMooijer, Petra A W
700 1 _aGootjes, Jeannette
700 1 _aKoster, Janet
700 1 _aWanders, Ronald J A
700 1 _aWaterham, Hans R
773 0 _tHuman mutation
_gvol. 32
_gno. 1
_gp. 59-69
856 4 0 _uhttps://doi.org/10.1002/humu.21388
_zAvailable from publisher's website
999 _c20331503
_d20331503