000			02247 a2200709 4500
005			20250516071015.0
264		0	_c20120312
008			201203s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2011.11.015 _2doi
040			_aNLM _beng _cNLM
100	1		_aEstrada-Cuzcano, Alejandro
245	0	0	_aMutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. _h[electronic resource]
260			_bAmerican journal of human genetics _cJan 2012
300			_a102-9 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAge of Onset
650	0	4	_aBase Sequence
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aChromosome Mapping
650	0	4	_aConsanguinity
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aGenes, Recessive
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aIntrons
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aProteins _xgenetics
650	0	4	_aRetinal Dystrophies _xgenetics
650	0	4	_aRetinal Pigment Epithelium _xmetabolism
700	1		_aNeveling, Kornelia
700	1		_aKohl, Susanne
700	1		_aBanin, Eyal
700	1		_aRotenstreich, Ygal
700	1		_aSharon, Dror
700	1		_aFalik-Zaccai, Tzipora C
700	1		_aHipp, Stephanie
700	1		_aRoepman, Ronald
700	1		_aWissinger, Bernd
700	1		_aLetteboer, Stef J F
700	1		_aMans, Dorus A
700	1		_aBlokland, Ellen A W
700	1		_aKwint, Michael P
700	1		_aGijsen, Sabine J
700	1		_avan Huet, Ramon A C
700	1		_aCollin, Rob W J
700	1		_aScheffer, H
700	1		_aVeltman, Joris A
700	1		_aZrenner, Eberhart
700	1		_aden Hollander, Anneke I
700	1		_aKlevering, B Jeroen
700	1		_aCremers, Frans P M
773	0		_tAmerican journal of human genetics _gvol. 90 _gno. 1 _gp. 102-9
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2011.11.015 _zAvailable from publisher's website
999			_c21398721 _d21398721