000			02176 a2200625 4500
005			20250515215316.0
264		0	_c20100927
008			201009s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.21250 _2doi
040			_aNLM _beng _cNLM
100	1		_aNikopoulos, Konstantinos
245	0	0	_aOverview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. _h[electronic resource]
260			_bHuman mutation _cJun 2010
300			_a656-66 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAnimals
650	0	4	_aBinding Sites _xgenetics
650	0	4	_aDisease Models, Animal
650	0	4	_aEye Proteins _xchemistry
650	0	4	_aFamily Health
650	0	4	_aFrizzled Receptors _xchemistry
650	0	4	_aHumans
650	0	4	_aLDL-Receptor Related Proteins _xchemistry
650	0	4	_aLow Density Lipoprotein Receptor-Related Protein-5
650	0	4	_aMice
650	0	4	_aModels, Molecular
650	0	4	_aMutation
650	0	4	_aNerve Tissue Proteins _xchemistry
650	0	4	_aProtein Structure, Secondary
650	0	4	_aProtein Structure, Tertiary
650	0	4	_aReceptors, G-Protein-Coupled _xchemistry
650	0	4	_aRetinal Diseases _xgenetics
650	0	4	_aSignal Transduction
650	0	4	_aVitreoretinopathy, Proliferative _xgenetics
650	0	4	_aWnt Proteins _xmetabolism
700	1		_aVenselaar, Hanka
700	1		_aCollin, Rob W J
700	1		_aRiveiro-Alvarez, Rosa
700	1		_aBoonstra, F Nienke
700	1		_aHooymans, Johanna M M
700	1		_aMukhopadhyay, Arijit
700	1		_aShears, Deborah
700	1		_avan Bers, Marleen
700	1		_ade Wijs, Ilse J
700	1		_avan Essen, Anthonie J
700	1		_aSijmons, Rolf H
700	1		_aTilanus, Mauk A D
700	1		_avan Nouhuys, C Erik
700	1		_aAyuso, Carmen
700	1		_aHoefsloot, Lies H
700	1		_aCremers, Frans P M
773	0		_tHuman mutation _gvol. 31 _gno. 6 _gp. 656-66
856	4	0	_uhttps://doi.org/10.1002/humu.21250 _zAvailable from publisher's website
999			_c19701452 _d19701452