000			01858 a2200565 4500
005			20250514051718.0
264		0	_c20021125
008			200211s 0 0 eng d
022			_a0002-9394
024	7		_a10.1016/s0002-9394(02)01638-0 _2doi
040			_aNLM _beng _cNLM
100	1		_aDonoso, Larry A
245	0	0	_aIdentification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. _h[electronic resource]
260			_bAmerican journal of ophthalmology _cNov 2002
300			_a720-7 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	_aAdolescent
650	0	4	_aAdult
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aCodon, Terminator _xgenetics
650	0	4	_aCohort Studies
650	0	4	_aCollagen Type II _xgenetics
650	0	4	_aConnective Tissue Diseases _xdiagnosis
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExons
650	0	4	_aEye Diseases, Hereditary _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Linkage
650	0	4	_aHumans
650	0	4	_aIncidence
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aRetinal Degeneration _xdiagnosis
650	0	4	_aRetinal Detachment _xdiagnosis
650	0	4	_aSequence Analysis, DNA
650	0	4	_aSyndrome
650	0	4	_aVitreous Body _xpathology
700	1		_aEdwards, Albert O
700	1		_aFrost, Arcilee T
700	1		_aRitter, Robert
700	1		_aAhmad, N Nina
700	1		_aVrabec, Tamara
700	1		_aRogers, Jerry
700	1		_aMeyer, David
773	0		_tAmerican journal of ophthalmology _gvol. 134 _gno. 5 _gp. 720-7
856	4	0	_uhttps://doi.org/10.1016/s0002-9394(02)01638-0 _zAvailable from publisher's website
999			_c12236380 _d12236380