000			02026 a2200613 4500
005			20250515151455.0
264		0	_c20090410
008			200904s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20924 _2doi
040			_aNLM _beng _cNLM
100	1		_aBrancati, Francesco
245	0	0	_aMKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. _h[electronic resource]
260			_bHuman mutation _cFeb 2009
300			_aE432-42 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aDNA Mutational Analysis
650	0	4	_aHumans
650	0	4	_aLiver _xpathology
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMembrane Proteins _xchemistry
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation _xgenetics
650	0	4	_aPhenotype
650	0	4	_aRNA Splice Sites _xgenetics
650	0	4	_aSyndrome
700	1		_aIannicelli, Miriam
700	1		_aTravaglini, Lorena
700	1		_aMazzotta, Annalisa
700	1		_aBertini, Enrico
700	1		_aBoltshauser, Eugen
700	1		_aD'Arrigo, Stefano
700	1		_aEmma, Francesco
700	1		_aFazzi, Elisa
700	1		_aGallizzi, Romina
700	1		_aGentile, Mattia
700	1		_aLoncarevic, Damir
700	1		_aMejaski-Bosnjak, Vlatka
700	1		_aPantaleoni, Chiara
700	1		_aRigoli, Luciana
700	1		_aSalpietro, Carmelo D
700	1		_aSignorini, Sabrina
700	1		_aStringini, Gilda Rita
700	1		_aVerloes, Alain
700	1		_aZabloka, Dominika
700	1		_aDallapiccola, Bruno
700	1		_aGleeson, Joseph G
700	1		_aValente, Enza Maria
773	0		_tHuman mutation _gvol. 30 _gno. 2 _gp. E432-42
856	4	0	_uhttps://doi.org/10.1002/humu.20924 _zAvailable from publisher's website
999			_c18512353 _d18512353