000 02199 a2200685 4500
005 20250516083035.0
264 0 _c20121009
008 201210s 0 0 eng d
022 _a1460-2083
024 7 _a10.1093/hmg/dds105
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHannan, Fadil M
245 0 0 _aIdentification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
_h[electronic resource]
260 _bHuman molecular genetics
_cJun 2012
300 _a2768-78 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aBinding Sites
_xgenetics
650 0 4 _aCalcium
_xchemistry
650 0 4 _aGenotype
650 0 4 _aHEK293 Cells
650 0 4 _aHumans
650 0 4 _aHypercalcemia
_xgenetics
650 0 4 _aHyperparathyroidism
650 0 4 _aHypocalcemia
_xgenetics
650 0 4 _aInfant, Newborn
650 0 4 _aModels, Molecular
650 0 4 _aMutation
650 0 4 _aMutation Rate
650 0 4 _aMutation, Missense
650 0 4 _aProtein Structure, Secondary
650 0 4 _aProtein Structure, Tertiary
650 0 4 _aReceptors, Calcium-Sensing
_xchemistry
700 1 _aNesbit, M Andrew
700 1 _aZhang, Chen
700 1 _aCranston, Treena
700 1 _aCurley, Alan J
700 1 _aHarding, Brian
700 1 _aFratter, Carl
700 1 _aRust, Nigel
700 1 _aChristie, Paul T
700 1 _aTurner, Jeremy J O
700 1 _aLemos, Manuel C
700 1 _aBowl, Michael R
700 1 _aBouillon, Roger
700 1 _aBrain, Caroline
700 1 _aBridges, Nicola
700 1 _aBurren, Christine
700 1 _aConnell, John M
700 1 _aJung, Heike
700 1 _aMarks, Eileen
700 1 _aMcCredie, David
700 1 _aMughal, Zulf
700 1 _aRodda, Christine
700 1 _aTollefsen, Sherida
700 1 _aBrown, Edward M
700 1 _aYang, Jenny J
700 1 _aThakker, Rajesh V
773 0 _tHuman molecular genetics
_gvol. 21
_gno. 12
_gp. 2768-78
856 4 0 _uhttps://doi.org/10.1093/hmg/dds105
_zAvailable from publisher's website
999 _c21627449
_d21627449