000			02069 a2200697 4500
005			20250516041149.0
264		0	_c20120125
008			201201s 0 0 eng d
022			_a1365-2133
024	7		_a10.1111/j.1365-2133.2011.10428.x _2doi
040			_aNLM _beng _cNLM
100	1		_aGarcía, M
245	0	0	_aTwo novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. _h[electronic resource]
260			_bThe British journal of dermatology _cSep 2011
300			_a683-92 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aChild, Preschool
650	0	4	_aCohort Studies
650	0	4	_aConsanguinity
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEpidermolysis Bullosa Simplex _xgenetics
650	0	4	_aFemale
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aKeratin-14 _xgenetics
650	0	4	_aKeratin-5 _xgenetics
650	0	4	_aMale
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPedigree
650	0	4	_aSpain
650	0	4	_aYoung Adult
700	1		_aSantiago, J L
700	1		_aTerrón, A
700	1		_aHernández-Martín, A
700	1		_aVicente, A
700	1		_aFortuny, C
700	1		_aDe Lucas, R
700	1		_aLópez, J C
700	1		_aCuadrado-Corrales, N
700	1		_aHolguín, A
700	1		_aIllera, N
700	1		_aDuarte, B
700	1		_aSánchez-Jimeno, C
700	1		_aLlames, S
700	1		_aGarcía, E
700	1		_aAyuso, C
700	1		_aMartínez-Santamaría, L
700	1		_aCastiglia, D
700	1		_aDe Luca, N
700	1		_aTorrelo, A
700	1		_aMechan, D
700	1		_aBaty, D
700	1		_aZambruno, G
700	1		_aEscámez, M J
700	1		_aDel Río, M
773	0		_tThe British journal of dermatology _gvol. 165 _gno. 3 _gp. 683-92
856	4	0	_uhttps://doi.org/10.1111/j.1365-2133.2011.10428.x _zAvailable from publisher's website
999			_c20883926 _d20883926