000			01963 a2200637 4500
005			20250516102243.0
264		0	_c20121228
008			201212s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmedgenet-2012-101039 _2doi
040			_aNLM _beng _cNLM
100	1		_aMiyake, Noriko
245	0	0	_aPAPSS2 mutations cause autosomal recessive brachyolmia. _h[electronic resource]
260			_bJournal of medical genetics _cAug 2012
300			_a533-8 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAsian People
650	0	4	_aCase-Control Studies
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aGenes, Recessive
650	0	4	_aGenetic Heterogeneity
650	0	4	_aGenetic Loci
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aGenetic Testing
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aMultienzyme Complexes _xgenetics
650	0	4	_aMutation
650	0	4	_aOsteochondrodysplasias _xdiagnostic imaging
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aRadiography
650	0	4	_aSulfate Adenylyltransferase _xgenetics
650	0	4	_aTRPV Cation Channels _xgenetics
650	0	4	_aTurkey
700	1		_aElcioglu, Nursel H
700	1		_aIida, Aritoshi
700	1		_aIsguven, Pinar
700	1		_aDai, Jin
700	1		_aMurakami, Nobuyuki
700	1		_aTakamura, Kazuyuki
700	1		_aCho, Tae-Joon
700	1		_aKim, Ok-Hwa
700	1		_aHasegawa, Tomonobu
700	1		_aNagai, Toshiro
700	1		_aOhashi, Hirofumi
700	1		_aNishimura, Gen
700	1		_aMatsumoto, Naomichi
700	1		_aIkegawa, Shiro
773	0		_tJournal of medical genetics _gvol. 49 _gno. 8 _gp. 533-8
856	4	0	_uhttps://doi.org/10.1136/jmedgenet-2012-101039 _zAvailable from publisher's website
999			_c21941673 _d21941673