000			02015 a2200601 4500
005			20250513222938.0
264		0	_c20010118
008			200101s 0 0 eng d
022			_a0002-9297
024	7		_a10.1086/316914 _2doi
040			_aNLM _beng _cNLM
100	1		_aZonana, J
245	0	0	_aA novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). _h[electronic resource]
260			_bAmerican journal of human genetics _cDec 2000
300			_a1555-62 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAdolescent
650	0	4	_aAlleles
650	0	4	_aBase Sequence
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEctodermal Dysplasia _xcomplications
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aGenes, Recessive _xgenetics
650	0	4	_aGenetic Linkage _xgenetics
650	0	4	_aHumans
650	0	4	_aI-kappa B Kinase
650	0	4	_aImmunologic Deficiency Syndromes _xcomplications
650	0	4	_aIncontinentia Pigmenti _xgenetics
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aMale
650	0	4	_aMutation _xgenetics
650	0	4	_aNF-kappa B _xphysiology
650	0	4	_aPedigree
650	0	4	_aProtein Serine-Threonine Kinases _xchemistry
650	0	4	_aProtein Structure, Tertiary
650	0	4	_aX Chromosome _xgenetics
700	1		_aElder, M E
700	1		_aSchneider, L C
700	1		_aOrlow, S J
700	1		_aMoss, C
700	1		_aGolabi, M
700	1		_aShapira, S K
700	1		_aFarndon, P A
700	1		_aWara, D W
700	1		_aEmmal, S A
700	1		_aFerguson, B M
773	0		_tAmerican journal of human genetics _gvol. 67 _gno. 6 _gp. 1555-62
856	4	0	_uhttps://doi.org/10.1086/316914 _zAvailable from publisher's website
999			_c10991515 _d10991515