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 |