000			02233 a2200709 4500
005			20250516021246.0
264		0	_c20110811
008			201108s 0 0 eng d
022			_a1549-4713
024	7		_a10.1016/j.ophtha.2010.10.009 _2doi
040			_aNLM _beng _cNLM
100	1		_aMohney, Brian G
245	0	0	_aA novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. _h[electronic resource]
260			_bOphthalmology _cJun 2011
300			_a1137-44 p. _bdigital
500			_aPublication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aAged
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aChromosomes, Human, Pair 3
650	0	4	_aDNA _xgenetics
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEye Abnormalities _xgenetics
650	0	4	_aFemale
650	0	4	_aFollow-Up Studies
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aLaminin _xgenetics
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMutation, Missense
650	0	4	_aMyasthenic Syndromes, Congenital
650	0	4	_aNephrotic Syndrome
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPupil Disorders _xgenetics
650	0	4	_aRetrospective Studies
650	0	4	_aYoung Adult
700	1		_aPulido, Jose S
700	1		_aLindor, Noralane M
700	1		_aHogan, Marie C
700	1		_aConsugar, Mark B
700	1		_aPeters, Justin
700	1		_aPankratz, V Shane
700	1		_aNasr, Samih H
700	1		_aSmith, Stephen J
700	1		_aGloor, James
700	1		_aKubly, Vickie
700	1		_aSpencer, Dorothy
700	1		_aNielson, Rebecca
700	1		_aPuffenberger, Erik G
700	1		_aStrauss, Kevin A
700	1		_aMorton, D Holmes
700	1		_aEldahdah, Lama
700	1		_aHarris, Peter C
773	0		_tOphthalmology _gvol. 118 _gno. 6 _gp. 1137-44
856	4	0	_uhttps://doi.org/10.1016/j.ophtha.2010.10.009 _zAvailable from publisher's website
999			_c20519322 _d20519322