000			01687 a2200529 4500
005			20250514050904.0
264		0	_c20030103
008			200301s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.10128 _2doi
040			_aNLM _beng _cNLM
100	1		_aMaxwell, Megan A
245	0	0	_aNovel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. _h[electronic resource]
260			_bHuman mutation _cNov 2002
300			_a342-51 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aATPases Associated with Diverse Cellular Activities
650	0	4	_aAustralia
650	0	4	_aBase Sequence
650	0	4	_aCell Line
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aCodon, Nonsense
650	0	4	_aCohort Studies
650	0	4	_aExons
650	0	4	_aFrameshift Mutation
650	0	4	_aGene Frequency
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aMembrane Proteins _xgenetics
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aPeroxisomal Disorders _xdiagnosis
650	0	4	_aPeroxisomes _xmetabolism
650	0	4	_aPhenotype
650	0	4	_aProtein Transport
650	0	4	_aRNA, Messenger _xmetabolism
700	1		_aAllen, Tamara
700	1		_aSolly, Pamela B
700	1		_aSvingen, Terje
700	1		_aPaton, Barbara C
700	1		_aCrane, Denis I
773	0		_tHuman mutation _gvol. 20 _gno. 5 _gp. 342-51
856	4	0	_uhttps://doi.org/10.1002/humu.10128 _zAvailable from publisher's website
999			_c12210831 _d12210831