000			02435 a2200793 4500
005			20250515103556.0
264		0	_c20080416
008			200804s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20677 _2doi
040			_aNLM _beng _cNLM
100	1		_aRiazuddin, Saima
245	0	0	_aMutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. _h[electronic resource]
260			_bHuman mutation _cApr 2008
300			_a502-11 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aAlleles
650	0	4	_aAmino Acid Sequence
650	0	4	_aAnimals
650	0	4	_aBase Composition
650	0	4	_aChromosomes, Human, Pair 11 _xgenetics
650	0	4	_aConsanguinity
650	0	4	_aDNA, Complementary _xgenetics
650	0	4	_aDeafness _xgenetics
650	0	4	_aDyneins _xchemistry
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aGenes, Recessive
650	0	4	_aGenetic Linkage
650	0	4	_aGreen Fluorescent Proteins _xgenetics
650	0	4	_aHair Cells, Auditory, Inner _xmetabolism
650	0	4	_aHumans
650	0	4	_aKinetics
650	0	4	_aMale
650	0	4	_aMice
650	0	4	_aMiddle Aged
650	0	4	_aModels, Molecular
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aMyosin VIIa
650	0	4	_aMyosins _xchemistry
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aProtein Conformation
650	0	4	_aRecombinant Fusion Proteins _xgenetics
650	0	4	_aSequence Deletion
650	0	4	_aSequence Homology, Amino Acid
650	0	4	_aTransfection
650	0	4	_aUsher Syndromes _xgenetics
700	1		_aNazli, Sabiha
700	1		_aAhmed, Zubair M
700	1		_aYang, Yi
700	1		_aZulfiqar, Fareeha
700	1		_aShaikh, Rehan S
700	1		_aZafar, Ahmed U
700	1		_aKhan, Shaheen N
700	1		_aSabar, Farooq
700	1		_aJavid, Fouzia T
700	1		_aWilcox, Edward R
700	1		_aTsilou, Ekaterini
700	1		_aBoger, Erich T
700	1		_aSellers, James R
700	1		_aBelyantseva, Inna A
700	1		_aRiazuddin, Sheikh
700	1		_aFriedman, Thomas B
773	0		_tHuman mutation _gvol. 29 _gno. 4 _gp. 502-11
856	4	0	_uhttps://doi.org/10.1002/humu.20677 _zAvailable from publisher's website
999			_c17691146 _d17691146