000			02141 a2200709 4500
005			20250515145750.0
264		0	_c20090410
008			200904s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20886 _2doi
040			_aNLM _beng _cNLM
100	1		_aSeifert, Wenke
245	0	0	_aExpanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. _h[electronic resource]
260			_bHuman mutation _cFeb 2009
300			_aE404-20 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	_aAdult
650	0	4	_aAlternative Splicing
650	0	4	_aAnimals
650	0	4	_aBase Sequence
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aGene Expression Profiling
650	0	4	_aGene Expression Regulation
650	0	4	_aHaplotypes
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMale
650	0	4	_aMice
650	0	4	_aMiddle Aged
650	0	4	_aMolecular Sequence Data
650	0	4	_aPedigree
650	0	4	_aPolymorphism, Genetic
650	0	4	_aRNA Splice Sites _xgenetics
650	0	4	_aRNA, Messenger _xgenetics
650	0	4	_aSyndrome
650	0	4	_aVesicular Transport Proteins _xgenetics
700	1		_aHolder-Espinasse, Muriel
700	1		_aKühnisch, Jirko
700	1		_aKahrizi, Kimia
700	1		_aTzschach, Andreas
700	1		_aGarshasbi, Masoud
700	1		_aNajmabadi, Hossein
700	1		_aWalter Kuss, Andreas
700	1		_aKress, Wolfram
700	1		_aLaureys, Geneviève
700	1		_aLoeys, Bart
700	1		_aBrilstra, Eva
700	1		_aMancini, Grazia M S
700	1		_aDollfus, Hélène
700	1		_aDahan, Karin
700	1		_aApse, Kira
700	1		_aHennies, Hans Christian
700	1		_aHorn, Denise
773	0		_tHuman mutation _gvol. 30 _gno. 2 _gp. E404-20
856	4	0	_uhttps://doi.org/10.1002/humu.20886 _zAvailable from publisher's website
999			_c18463874 _d18463874