Piret, Sian E <br/><br/>
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).  [electronic resource] 

 -  Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research  06 2016 
 - 1207-14 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1523-4681 
<br/><br/><label>Standard No.: </label>10.1002/jbmr.2797  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aged<br/>Amino Acid Substitution<br/>Family<br/>GTP-Binding Protein alpha Subunits--chemistry<br/>HEK293 Cells<br/>Humans<br/>Hypercalciuria--genetics<br/>Hypocalcemia--genetics<br/>Hypoparathyroidism--congenital<br/>Iran<br/>Male<br/>Mutation, Missense<br/>Protein Structure, Secondary<br/>Receptors, Calcium-Sensing--genetics<br/>Signal Transduction