000			01854 a2200565 4500
005			20250513235508.0
264		0	_c20010830
008			200108s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.1116 _2doi
040			_aNLM _beng _cNLM
100	1		_aCampbell, C
245	0	0	_aPendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. _h[electronic resource]
260			_bHuman mutation _cMay 2001
300			_a403-11 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAlleles
650	0	4	_aBlotting, Southern
650	0	4	_aCarrier Proteins _xgenetics
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDeafness _xgenetics
650	0	4	_aExons _xgenetics
650	0	4	_aFamily
650	0	4	_aGenes, Recessive _xgenetics
650	0	4	_aGenetic Testing
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMembrane Transport Proteins
650	0	4	_aMutation _xgenetics
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPhenotype
650	0	4	_aSulfate Transporters
650	0	4	_aSyndrome
650	0	4	_aTemporal Bone _xabnormalities
650	0	4	_aVestibular Aqueduct _xabnormalities
700	1		_aCucci, R A
700	1		_aPrasad, S
700	1		_aGreen, G E
700	1		_aEdeal, J B
700	1		_aGaler, C E
700	1		_aKarniski, L P
700	1		_aSheffield, V C
700	1		_aSmith, R J
773	0		_tHuman mutation _gvol. 17 _gno. 5 _gp. 403-11
856	4	0	_uhttps://doi.org/10.1002/humu.1116 _zAvailable from publisher's website
999			_c11251676 _d11251676