Kanakamani, Jeyaraman <br/><br/>
Presence 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.  [electronic resource] 

 -  Calcified tissue international  Jan 2010 
 - 33-41 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-0827 
<br/><br/><label>Standard No.: </label>10.1007/s00223-009-9310-2  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Alkaline Phosphatase--blood<br/>Alopecia--genetics<br/>Amino Acid Sequence--genetics<br/>Base Sequence<br/>Calcitriol--blood<br/>Calcium--pharmacology<br/>Codon, Nonsense--genetics<br/>DNA Mutational Analysis<br/>Familial Hypophosphatemic Rickets--drug therapy<br/>Female<br/>Frameshift Mutation--genetics<br/>Gene Deletion<br/>Genetic Markers<br/>Genetic Predisposition to Disease--genetics<br/>Humans<br/>Hyperparathyroidism--genetics<br/>Hypocalcemia--genetics<br/>Hypophosphatemia--genetics<br/>Mutation--genetics<br/>Phosphates--pharmacology<br/>Protein Structure, Tertiary--genetics<br/>Receptors, Calcitriol--chemistry<br/>Recovery of Function--physiology<br/>Treatment Outcome