000			02000 a2200601 4500
005			20250514024636.0
264		0	_c20020418
008			200204s 0 0 eng d
022			_a0002-9297
024	7		_a10.1086/339766 _2doi
040			_aNLM _beng _cNLM
100	1		_aRaas-Rothschild, Annick
245	0	0	_aA PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. _h[electronic resource]
260			_bAmerican journal of human genetics _cApr 2002
300			_a1062-8 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	_aAdenosine Triphosphatases _xgenetics
650	0	4	_aAdult
650	0	4	_aCells, Cultured
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFatal Outcome
650	0	4	_aFemale
650	0	4	_aFibroblasts
650	0	4	_aGenetic Complementation Test
650	0	4	_aHearing Loss, Sensorineural _xgenetics
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aLiver _xpathology
650	0	4	_aMale
650	0	4	_aMosaicism
650	0	4	_aPeroxisomal Disorders _xgenetics
650	0	4	_aPhenotype
650	0	4	_aRetinitis Pigmentosa _xgenetics
650	0	4	_aSyndrome
650	0	4	_aTemperature
700	1		_aWanders, Ronald J A
700	1		_aMooijer, Petra A W
700	1		_aGootjes, Jeannette
700	1		_aWaterham, Hans R
700	1		_aGutman, Alisa
700	1		_aSuzuki, Yasuyuki
700	1		_aShimozawa, Nobuyuki
700	1		_aKondo, Naomi
700	1		_aEshel, Gideon
700	1		_aEspeel, Marc
700	1		_aRoels, Frank
700	1		_aKorman, Stanley H
773	0		_tAmerican journal of human genetics _gvol. 70 _gno. 4 _gp. 1062-8
856	4	0	_uhttps://doi.org/10.1086/339766 _zAvailable from publisher's website
999			_c11780598 _d11780598