000			02395 a2200745 4500
005			20250516073857.0
264		0	_c20120619
008			201206s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2011.12.004 _2doi
040			_aNLM _beng _cNLM
100	1		_aBaumann, Matthias
245	0	0	_aMutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. _h[electronic resource]
260			_bAmerican journal of human genetics _cFeb 2012
300			_a201-16 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAdolescent
650	0	4	_aAmino Acids _xurine
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aEhlers-Danlos Syndrome _xgenetics
650	0	4	_aEndoplasmic Reticulum _xgenetics
650	0	4	_aExtracellular Matrix _xgenetics
650	0	4	_aFemale
650	0	4	_aFibroblasts _xmetabolism
650	0	4	_aFrameshift Mutation
650	0	4	_aGenetic Variation
650	0	4	_aHearing Loss _xgenetics
650	0	4	_aHeterozygote
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aPeptidylprolyl Isomerase _xgenetics
650	0	4	_aPhenotype
650	0	4	_aProtein Folding
650	0	4	_acis-trans-Isomerases _xgenetics
700	1		_aGiunta, Cecilia
700	1		_aKrabichler, Birgit
700	1		_aRüschendorf, Franz
700	1		_aZoppi, Nicoletta
700	1		_aColombi, Marina
700	1		_aBittner, Reginald E
700	1		_aQuijano-Roy, Susana
700	1		_aMuntoni, Francesco
700	1		_aCirak, Sebahattin
700	1		_aSchreiber, Gudrun
700	1		_aZou, Yaqun
700	1		_aHu, Ying
700	1		_aRomero, Norma Beatriz
700	1		_aCarlier, Robert Yves
700	1		_aAmberger, Albert
700	1		_aDeutschmann, Andrea
700	1		_aStraub, Volker
700	1		_aRohrbach, Marianne
700	1		_aSteinmann, Beat
700	1		_aRostásy, Kevin
700	1		_aKarall, Daniela
700	1		_aBönnemann, Carsten G
700	1		_aZschocke, Johannes
700	1		_aFauth, Christine
773	0		_tAmerican journal of human genetics _gvol. 90 _gno. 2 _gp. 201-16
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2011.12.004 _zAvailable from publisher's website
999			_c21479919 _d21479919