000			02248 a2200649 4500
005			20250514181745.0
264		0	_c20040402
008			200404s 0 0 eng d
022			_a0021-972X
024	7		_a10.1210/jc.2003-030476 _2doi
040			_aNLM _beng _cNLM
100	1		_aSato, Naoko
245	0	0	_aClinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. _h[electronic resource]
260			_bThe Journal of clinical endocrinology and metabolism _cMar 2004
300			_a1079-88 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
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExtracellular Matrix Proteins _xgenetics
650	0	4	_aFamily Health
650	0	4	_aFemale
650	0	4	_aGenetic Predisposition to Disease _xepidemiology
650	0	4	_aHumans
650	0	4	_aKallmann Syndrome _xepidemiology
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aNerve Tissue Proteins _xgenetics
650	0	4	_aPedigree
650	0	4	_aPrevalence
650	0	4	_aReceptor Protein-Tyrosine Kinases _xgenetics
650	0	4	_aReceptor, Fibroblast Growth Factor, Type 1
650	0	4	_aReceptors, Fibroblast Growth Factor _xgenetics
650	0	4	_aSmell
700	1		_aKatsumata, Noriyuki
700	1		_aKagami, Masayo
700	1		_aHasegawa, Tomonobu
700	1		_aHori, Naoaki
700	1		_aKawakita, Setsuyo
700	1		_aMinowada, Shigeru
700	1		_aShimotsuka, Aki
700	1		_aShishiba, Yoshimasa
700	1		_aYokozawa, Masato
700	1		_aYasuda, Toshiyuki
700	1		_aNagasaki, Keisuke
700	1		_aHasegawa, Daiichiro
700	1		_aHasegawa, Yukihiro
700	1		_aTachibana, Katsuhiko
700	1		_aNaiki, Yasuhiro
700	1		_aHorikawa, Reiko
700	1		_aTanaka, Toshiaki
700	1		_aOgata, Tsutomu
773	0		_tThe Journal of clinical endocrinology and metabolism _gvol. 89 _gno. 3 _gp. 1079-88
856	4	0	_uhttps://doi.org/10.1210/jc.2003-030476 _zAvailable from publisher's website
999			_c14721782 _d14721782