000			02310 a2200721 4500
005			20250517165513.0
264		0	_c20171102
008			201711s 0 0 eng d
022			_a1523-1747
024	7		_a10.1016/j.jid.2017.06.028 _2doi
040			_aNLM _beng _cNLM
100	1		_aTakeichi, Takuya
245	0	0	_aBiallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. _h[electronic resource]
260			_bThe Journal of investigative dermatology _c11 2017
300			_a2344-2353 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAlcohol Oxidoreductases _xgenetics
650	0	4	_aAlleles
650	0	4	_aBiopsy, Needle
650	0	4	_aCeramides _xbiosynthesis
650	0	4	_aChild
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aHumans
650	0	4	_aImmunohistochemistry
650	0	4	_aIn Vitro Techniques
650	0	4	_aKeratoderma, Palmoplantar _xcomplications
650	0	4	_aMale
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aPrognosis
650	0	4	_aSampling Studies
650	0	4	_aSeverity of Illness Index
650	0	4	_aThrombocytopenia _xcomplications
650	0	4	_aYoung Adult
700	1		_aTorrelo, Antonio
700	1		_aLee, John Y W
700	1		_aOhno, Yusuke
700	1		_aLozano, María Luisa
700	1		_aKihara, Akio
700	1		_aLiu, Lu
700	1		_aYasuda, Yuka
700	1		_aIshikawa, Junko
700	1		_aMurase, Takatoshi
700	1		_aRodrigo, Ana Belén
700	1		_aFernández-Crehuet, Pablo
700	1		_aToi, Yoichiro
700	1		_aMellerio, Jemima
700	1		_aRivera, José
700	1		_aVicente, Vicente
700	1		_aKelsell, David P
700	1		_aNishimura, Yutaka
700	1		_aOkuno, Yusuke
700	1		_aKojima, Daiei
700	1		_aOgawa, Yasushi
700	1		_aSugiura, Kazumitsu
700	1		_aSimpson, Michael A
700	1		_aMcLean, W H Irwin
700	1		_aAkiyama, Masashi
700	1		_aMcGrath, John A
773	0		_tThe Journal of investigative dermatology _gvol. 137 _gno. 11 _gp. 2344-2353
856	4	0	_uhttps://doi.org/10.1016/j.jid.2017.06.028 _zAvailable from publisher's website
999			_c27432718 _d27432718