000			01995 a2200541 4500
005			20250515194436.0
264		0	_c20100420
008			201004s 0 0 eng d
022			_a1432-0827
024	7		_a10.1007/s00223-009-9310-2 _2doi
040			_aNLM _beng _cNLM
100	1		_aKanakamani, Jeyaraman
245	0	0	_aPresence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II. _h[electronic resource]
260			_bCalcified tissue international _cJan 2010
300			_a33-41 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAlkaline Phosphatase _xblood
650	0	4	_aAlopecia _xgenetics
650	0	4	_aAmino Acid Sequence _xgenetics
650	0	4	_aBase Sequence
650	0	4	_aCalcitriol _xblood
650	0	4	_aCalcium _xpharmacology
650	0	4	_aCodon, Nonsense _xgenetics
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFamilial Hypophosphatemic Rickets _xdrug therapy
650	0	4	_aFemale
650	0	4	_aFrameshift Mutation _xgenetics
650	0	4	_aGene Deletion
650	0	4	_aGenetic Markers
650	0	4	_aGenetic Predisposition to Disease _xgenetics
650	0	4	_aHumans
650	0	4	_aHyperparathyroidism _xgenetics
650	0	4	_aHypocalcemia _xgenetics
650	0	4	_aHypophosphatemia _xgenetics
650	0	4	_aMutation _xgenetics
650	0	4	_aPhosphates _xpharmacology
650	0	4	_aProtein Structure, Tertiary _xgenetics
650	0	4	_aReceptors, Calcitriol _xchemistry
650	0	4	_aRecovery of Function _xphysiology
650	0	4	_aTreatment Outcome
700	1		_aTomar, Neeraj
700	1		_aKaushal, Esha
700	1		_aTandon, Nikhil
700	1		_aGoswami, Ravinder
773	0		_tCalcified tissue international _gvol. 86 _gno. 1 _gp. 33-41
856	4	0	_uhttps://doi.org/10.1007/s00223-009-9310-2 _zAvailable from publisher's website
999			_c19306677 _d19306677