000			01926 a2200577 4500
005			20250513194039.0
264		0	_c20000106
008			200001s 0 0 eng d
022			_a1059-7794
024	7		_a10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E _2doi
040			_aNLM _beng _cNLM
100	1		_aSchimmenti, L A
245	0	0	_aHomonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. _h[electronic resource]
260			_bHuman mutation _c1999
300			_a369-76 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAdult
650	0	4	_aAmino Acid Sequence
650	0	4	_aAnimals
650	0	4	_aArnold-Chiari Malformation _xgenetics
650	0	4	_aBase Sequence
650	0	4	_aChild, Preschool
650	0	4	_aColoboma _xgenetics
650	0	4	_aDNA Primers _xgenetics
650	0	4	_aDNA-Binding Proteins _xgenetics
650	0	4	_aFemale
650	0	4	_aGenes, Dominant
650	0	4	_aHumans
650	0	4	_aKidney _xabnormalities
650	0	4	_aMale
650	0	4	_aMice
650	0	4	_aMutation
650	0	4	_aMutation, Missense
650	0	4	_aPAX2 Transcription Factor
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aSyndrome
650	0	4	_aTranscription Factors _xgenetics
700	1		_aShim, H H
700	1		_aWirtschafter, J D
700	1		_aPanzarino, V A
700	1		_aKashtan, C E
700	1		_aKirkpatrick, S J
700	1		_aWargowski, D S
700	1		_aFrance, T D
700	1		_aMichel, E
700	1		_aDobyns, W B
773	0		_tHuman mutation _gvol. 14 _gno. 5 _gp. 369-76
856	4	0	_uhttps://doi.org/10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E _zAvailable from publisher's website
999			_c10489974 _d10489974