Hannan, Fadil M <br/><br/>
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.  [electronic resource] 

 -  Human molecular genetics  Jun 2012 
 - 2768-78 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/dds105  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Binding Sites--genetics<br/>Calcium--chemistry<br/>Genotype<br/>HEK293 Cells<br/>Humans<br/>Hypercalcemia--genetics<br/>Hyperparathyroidism<br/>Hypocalcemia--genetics<br/>Infant, Newborn<br/>Models, Molecular<br/>Mutation<br/>Mutation Rate<br/>Mutation, Missense<br/>Protein Structure, Secondary<br/>Protein Structure, Tertiary<br/>Receptors, Calcium-Sensing--chemistry