000			01845 a2200517 4500
005			20250513225831.0
264		0	_c20010222
008			200102s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O _2doi
040			_aNLM _beng _cNLM
100	1		_aZwaenepoel, I
245	0	0	_aIdentification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. _h[electronic resource]
260			_bHuman mutation _c2001
300			_a34-41 p. _bdigital
500			_aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAdaptor Proteins, Signal Transducing
650	0	4	_aAlternative Splicing _xgenetics
650	0	4	_aAmino Acid Substitution _xgenetics
650	0	4	_aCarrier Proteins _xgenetics
650	0	4	_aCell Cycle Proteins
650	0	4	_aChild
650	0	4	_aCodon, Nonsense _xgenetics
650	0	4	_aCytoskeletal Proteins
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDeafness _xcongenital
650	0	4	_aFemale
650	0	4	_aGenetic Carrier Screening
650	0	4	_aHaplotypes _xgenetics
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMutation
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPolymorphism, Genetic _xgenetics
650	0	4	_aRetinitis Pigmentosa _xcongenital
650	0	4	_aSyndrome
700	1		_aVerpy, E
700	1		_aBlanchard, S
700	1		_aMeins, M
700	1		_aApfelstedt-Sylla, E
700	1		_aGal, A
700	1		_aPetit, C
773	0		_tHuman mutation _gvol. 17 _gno. 1 _gp. 34-41
856	4	0	_uhttps://doi.org/10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O _zAvailable from publisher's website
999			_c11079308 _d11079308