000			02013 a2200625 4500
005			20250514214009.0
264		0	_c20050328
008			200503s 0 0 eng d
022			_a0002-9297
024	7		_a10.1086/428141 _2doi
040			_aNLM _beng _cNLM
100	1		_aNakabayashi, Kazuhiko
245	0	0	_aIdentification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. _h[electronic resource]
260			_bAmerican journal of human genetics _cMar 2005
300			_a510-6 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aChromosomes, Human, Pair 7 _xgenetics
650	0	4	_aDNA _xgenetics
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEctodermal Dysplasia _xgenetics
650	0	4	_aFemale
650	0	4	_aHair _xabnormalities
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aOpen Reading Frames
650	0	4	_aPedigree
650	0	4	_aPhotosensitivity Disorders _xgenetics
650	0	4	_aSequence Homology, Amino Acid
650	0	4	_aSyndrome
700	1		_aAmann, Daniela
700	1		_aRen, Yan
700	1		_aSaarialho-Kere, Ulpu
700	1		_aAvidan, Nili
700	1		_aGentles, Simone
700	1		_aMacDonald, Jeffrey R
700	1		_aPuffenberger, Erik G
700	1		_aChristiano, Angela M
700	1		_aMartinez-Mir, Amalia
700	1		_aSalas-Alanis, Julio C
700	1		_aRizzo, Renata
700	1		_aVamos, Esther
700	1		_aRaams, Anja
700	1		_aLes, Clifford
700	1		_aSeboun, Eric
700	1		_aJaspers, Nicolaas G J
700	1		_aBeckmann, Jacques S
700	1		_aJackson, Charles E
700	1		_aScherer, Stephen W
773	0		_tAmerican journal of human genetics _gvol. 76 _gno. 3 _gp. 510-6
856	4	0	_uhttps://doi.org/10.1086/428141 _zAvailable from publisher's website
999			_c15324875 _d15324875