000			01985 a2200541 4500
005			20250516150931.0
264		0	_c20140722
008			201407s 0 0 eng d
022			_a1569-1802
024	7		_a10.1016/j.matbio.2013.05.001 _2doi
040			_aNLM _beng _cNLM
100	1		_aGrosch, Melanie
245	0	0	_aIdentification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. _h[electronic resource]
260			_bMatrix biology : journal of the International Society for Matrix Biology _c
300			_a387-92 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aChromosome Mapping
650	0	4	_aCytoskeletal Proteins _xgenetics
650	0	4	_aDNA Polymerase II _xgenetics
650	0	4	_aGene Components
650	0	4	_aHumans
650	0	4	_aJoint Instability _xgenetics
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aNuclear Proteins _xgenetics
650	0	4	_aOsteochondrodysplasias _xgenetics
650	0	4	_aPedigree
650	0	4	_aPolymorphism, Single Nucleotide _xgenetics
650	0	4	_aProtein Isoforms _xgenetics
650	0	4	_aSequence Alignment
650	0	4	_aSequence Analysis, DNA
700	1		_aGrüner, Barbara
700	1		_aSpranger, Stephanie
700	1		_aStütz, Adrian M
700	1		_aRausch, Tobias
700	1		_aKorbel, Jan O
700	1		_aSeelow, Dominik
700	1		_aNürnberg, Peter
700	1		_aSticht, Heinrich
700	1		_aLausch, Ekkehart
700	1		_aZabel, Bernhard
700	1		_aWinterpacht, Andreas
700	1		_aTagariello, Andreas
773	0		_tMatrix biology : journal of the International Society for Matrix Biology _gvol. 32 _gno. 7-8 _gp. 387-92
856	4	0	_uhttps://doi.org/10.1016/j.matbio.2013.05.001 _zAvailable from publisher's website
999			_c22743084 _d22743084