000			01426 a2200397 4500
005			20250514004906.0
264		0	_c20011025
008			200110s 0 0 eng d
022			_a0906-6705
024	7		_a10.1034/j.1600-0625.2001.100409.x _2doi
040			_aNLM _beng _cNLM
100	1		_aBecker, K
245	0	0	_aIdentification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome. _h[electronic resource]
260			_bExperimental dermatology _cAug 2001
300			_a286-9 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAmino Acid Substitution
650	0	4	_aBase Sequence _xgenetics
650	0	4	_aChondrodysplasia Punctata _xgenetics
650	0	4	_aElectrophoresis, Polyacrylamide Gel
650	0	4	_aFemale
650	0	4	_aHeteroduplex Analysis
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPedigree
650	0	4	_aPolymerase Chain Reaction
650	0	4	_aReference Values
650	0	4	_aSteroid Isomerases _xgenetics
700	1		_aCsikós, M
700	1		_aHorváth, A
700	1		_aKárpáti, S
773	0		_tExperimental dermatology _gvol. 10 _gno. 4 _gp. 286-9
856	4	0	_uhttps://doi.org/10.1034/j.1600-0625.2001.100409.x _zAvailable from publisher's website
999			_c11418759 _d11418759