000			01928 a2200601 4500
005			20250518010903.0
264		0	_c20200309
008			202003s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.23689 _2doi
040			_aNLM _beng _cNLM
100	1		_aFaridi, Rabia
245	0	0	_aMutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. _h[electronic resource]
260			_bHuman mutation _c02 2019
300			_a162-176 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aCodon, Nonsense _xgenetics
650	0	4	_aDeafness _xgenetics
650	0	4	_aFemale
650	0	4	_aHeart Ventricles _xmetabolism
650	0	4	_aHeterozygote
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aJervell-Lange Nielsen Syndrome _xgenetics
650	0	4	_aLong QT Syndrome
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPotassium Channels, Voltage-Gated _xgenetics
650	0	4	_aRomano-Ward Syndrome _xgenetics
650	0	4	_aYoung Adult
700	1		_aTona, Risa
700	1		_aBrofferio, Alessandra
700	1		_aHoa, Michael
700	1		_aOlszewski, Rafal
700	1		_aSchrauwen, Isabelle
700	1		_aAssir, Muhammad Z K
700	1		_aBandesha, Akhtar A
700	1		_aKhan, Asma A
700	1		_aRehman, Atteeq U
700	1		_aBrewer, Carmen
700	1		_aAhmed, Wasim
700	1		_aLeal, Suzanne M
700	1		_aRiazuddin, Sheikh
700	1		_aBoyden, Steven E
700	1		_aFriedman, Thomas B
773	0		_tHuman mutation _gvol. 40 _gno. 2 _gp. 162-176
856	4	0	_uhttps://doi.org/10.1002/humu.23689 _zAvailable from publisher's website
999			_c29075763 _d29075763