Bowl, Michael R <br/><br/>
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.  [electronic resource] 

 -  Human molecular genetics  May 2010 
 - 2028-38 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/ddq084  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Cell Nucleus--metabolism<br/>DNA--metabolism<br/>Enzyme Assays<br/>Family<br/>Female<br/>Genes, Recessive--genetics<br/>Genes, Reporter<br/>Humans<br/>Hypoparathyroidism--genetics<br/>Luciferases--metabolism<br/>Male<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutant Proteins--chemistry<br/>Mutation--genetics<br/>Nuclear Proteins--chemistry<br/>Organ Specificity--genetics<br/>Parathyroid Glands--metabolism<br/>Pedigree<br/>Protein Binding<br/>Protein Transport<br/>Transcription Factors--chemistry