000			02027 a2200649 4500
005			20250515155246.0
264		0	_c20090528
008			200905s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20975 _2doi
040			_aNLM _beng _cNLM
100	1		_aAiello, Chiara
245	0	0	_aMutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. _h[electronic resource]
260			_bHuman mutation _cMar 2009
300			_aE530-40 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAmino Acid Sequence
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFemale
650	0	4	_aGene Frequency
650	0	4	_aHumans
650	0	4	_aItaly
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMale
650	0	4	_aMembrane Transport Proteins _xgenetics
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aNeuronal Ceroid-Lipofuscinoses _xgenetics
650	0	4	_aPedigree
650	0	4	_aSequence Homology, Amino Acid
700	1		_aTerracciano, Alessandra
700	1		_aSimonati, Alessandro
700	1		_aDiscepoli, Giancarlo
700	1		_aCannelli, Natalia
700	1		_aClaps, Dianela
700	1		_aCrow, Yanick J
700	1		_aBianchi, Marzia
700	1		_aKitzmuller, Claudia
700	1		_aLongo, Daniela
700	1		_aTavoni, Antonietta
700	1		_aFranzoni, Emilio
700	1		_aTessa, Alessandra
700	1		_aVeneselli, Edwige
700	1		_aBoldrini, Renata
700	1		_aFilocamo, Mirella
700	1		_aWilliams, Ruth E
700	1		_aBertini, Enrico S
700	1		_aBiancheri, Roberta
700	1		_aCarrozzo, Rosalba
700	1		_aMole, Sara E
700	1		_aSantorelli, Filippo M
773	0		_tHuman mutation _gvol. 30 _gno. 3 _gp. E530-40
856	4	0	_uhttps://doi.org/10.1002/humu.20975 _zAvailable from publisher's website
999			_c18623345 _d18623345