000			02133 a2200625 4500
005			20250516034846.0
264		0	_c20110815
008			201108s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2011.04.002 _2doi
040			_aNLM _beng _cNLM
100	1		_aVissers, Lisenka E L M
245	0	0	_aChondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. _h[electronic resource]
260			_bAmerican journal of human genetics _cMay 2011
300			_a608-15 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Sequence
650	0	4	_aBone Diseases, Developmental _xenzymology
650	0	4	_aFemale
650	0	4	_aGolgi Apparatus _xenzymology
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aJoint Diseases _xenzymology
650	0	4	_aLimb Deformities, Congenital _xpathology
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aNucleotides _xmetabolism
650	0	4	_aPhenotype
650	0	4	_aPhosphoric Monoester Hydrolases _xgenetics
650	0	4	_aProtein Structure, Quaternary
650	0	4	_aProteoglycans _xmetabolism
650	0	4	_aSulfotransferases _xmetabolism
650	0	4	_aYoung Adult
700	1		_aLausch, Ekkehart
700	1		_aUnger, Sheila
700	1		_aCampos-Xavier, Ana Belinda
700	1		_aGilissen, Christian
700	1		_aRossi, Antonio
700	1		_aDel Rosario, Marisol
700	1		_aVenselaar, Hanka
700	1		_aKnoll, Ute
700	1		_aNampoothiri, Sheela
700	1		_aNair, Mohandas
700	1		_aSpranger, Jürgen
700	1		_aBrunner, Han G
700	1		_aBonafé, Luisa
700	1		_aVeltman, Joris A
700	1		_aZabel, Bernhard
700	1		_aSuperti-Furga, Andrea
773	0		_tAmerican journal of human genetics _gvol. 88 _gno. 5 _gp. 608-15
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2011.04.002 _zAvailable from publisher's website
999			_c20812904 _d20812904