000			01664 a2200457 4500
005			20250513204913.0
264		0	_c20000428
008			200004s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU26>3.0.CO;2-T _2doi
040			_aNLM _beng _cNLM
100	1		_aWei, J
245	0	0	_aNovel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. _h[electronic resource]
260			_bHuman mutation _cApr 2000
300			_a387-8 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aChild, Preschool
650	0	4	_aFemale
650	0	4	_aFrameshift Mutation _xgenetics
650	0	4	_aGenes, Dominant _xgenetics
650	0	4	_aGenes, Recessive _xgenetics
650	0	4	_aHearing _xgenetics
650	0	4	_aHumans
650	0	4	_aKCNQ Potassium Channels
650	0	4	_aKCNQ1 Potassium Channel
650	0	4	_aLong QT Syndrome _xcongenital
650	0	4	_aMale
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPotassium Channels _xgenetics
650	0	4	_aPotassium Channels, Voltage-Gated
700	1		_aFish, F A
700	1		_aMyerburg, R J
700	1		_aRoden, D M
700	1		_aGeorge, A L
773	0		_tHuman mutation _gvol. 15 _gno. 4 _gp. 387-8
856	4	0	_uhttps://doi.org/10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU26>3.0.CO;2-T _zAvailable from publisher's website
999			_c10691488 _d10691488