000			02072 a2200637 4500
005			20250516002949.0
264		0	_c20110504
008			201105s 0 0 eng d
022			_a1476-5438
024	7		_a10.1038/ejhg.2010.147 _2doi
040			_aNLM _beng _cNLM
100	1		_aArrigoni, Francesca I
245	0	0	_aExtended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. _h[electronic resource]
260			_bEuropean journal of human genetics : EJHG _cFeb 2011
300			_a131-7 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAC133 Antigen
650	0	4	_aAbortion, Spontaneous _xgenetics
650	0	4	_aAdult
650	0	4	_aAged
650	0	4	_aAntigens, CD _xgenetics
650	0	4	_aCognition
650	0	4	_aEmpty Sella Syndrome _xdiagnostic imaging
650	0	4	_aEndothelial Cells _xpathology
650	0	4	_aFamily
650	0	4	_aFemale
650	0	4	_aGenes, Dominant
650	0	4	_aGlycoproteins _xgenetics
650	0	4	_aHematuria _xgenetics
650	0	4	_aHippocampus _xdiagnostic imaging
650	0	4	_aHumans
650	0	4	_aKidney Diseases _xgenetics
650	0	4	_aMacular Degeneration _xgenetics
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMutation, Missense
650	0	4	_aPeptides _xgenetics
650	0	4	_aPhenotype
650	0	4	_aRadiography
650	0	4	_aYoung Adult
700	1		_aMatarin, Mar
700	1		_aThompson, Pamela J
700	1		_aMichaelides, Michel
700	1		_aMcClements, Michelle E
700	1		_aRedmond, Elizabeth
700	1		_aClarke, Lindsey
700	1		_aEllins, Elizabeth
700	1		_aMohamed, Saifullah
700	1		_aPavord, Ian
700	1		_aKlein, Nigel
700	1		_aHunt, David M
700	1		_aMoore, Anthony T
700	1		_aHalcox, Julian
700	1		_aSisodiya, Sanjay M
773	0		_tEuropean journal of human genetics : EJHG _gvol. 19 _gno. 2 _gp. 131-7
856	4	0	_uhttps://doi.org/10.1038/ejhg.2010.147 _zAvailable from publisher's website
999			_c20189346 _d20189346