000			01717 a2200505 4500
005			20250514045017.0
264		0	_c20030103
008			200301s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.9066 _2doi
040			_aNLM _beng _cNLM
100	1		_aSale, Michèle M
245	0	0	_aBroad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. _h[electronic resource]
260			_bHuman mutation _cOct 2002
300			_a322 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAniridia _xgenetics
650	0	4	_aCytosine
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEye Proteins _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Variation _xgenetics
650	0	4	_aHomeodomain Proteins _xgenetics
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMutation _xgenetics
650	0	4	_aPAX6 Transcription Factor
650	0	4	_aPaired Box Transcription Factors
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aRepressor Proteins _xgenetics
650	0	4	_aSequence Deletion _xgenetics
650	0	4	_aTranscription Factors _xgenetics
700	1		_aCraig, Jamie E
700	1		_aCharlesworth, Jacinta C
700	1		_aFitzGerald, Liesel M
700	1		_aHanson, Isabel M
700	1		_aDickinson, Joanne L
700	1		_aMatthews, Sarah J
700	1		_aHeyningen Vv, Veronica van
700	1		_aFingert, John H
700	1		_aMackey, David A
773	0		_tHuman mutation _gvol. 20 _gno. 4 _gp. 322
856	4	0	_uhttps://doi.org/10.1002/humu.9066 _zAvailable from publisher's website
999			_c12154041 _d12154041