Abbasi, Farzaneh <br/><br/>
A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS).  [electronic resource] 

 -  Gene  Jun 2014 
 - 269-71 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1879-0038 
<br/><br/><label>Standard No.: </label>10.1016/j.gene.2014.03.052  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Child, Preschool<br/>Computer Simulation<br/>Fibroblast Growth Factor-23<br/>Fibroblast Growth Factors--chemistry<br/>Homozygote<br/>Humans<br/>Hyperostosis--genetics<br/>Hyperphosphatemia--genetics<br/>Male<br/>Mutation, Missense<br/>N-Acetylgalactosaminyltransferases--genetics<br/>Protein Conformation<br/>Polypeptide N-acetylgalactosaminyltransferase