Hamajima, Naoki <br/><br/>
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.  [electronic resource] 

 -  PloS one  2013 
 - e75137 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1932-6203 
<br/><br/><label>Standard No.: </label>10.1371/journal.pone.0075137  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adrenal Insufficiency<br/>Base Sequence<br/>Blotting, Western<br/>Cyclin-Dependent Kinase Inhibitor p57--genetics<br/>Cycloheximide<br/>Exome--genetics<br/>Female<br/>Fetal Growth Retardation<br/>Flow Cytometry<br/>Gene Components<br/>Humans<br/>Leupeptins<br/>Male<br/>Molecular Sequence Data<br/>Mutation, Missense--genetics<br/>Osteochondrodysplasias<br/>Pedigree<br/>Phenotype<br/>Proliferating Cell Nuclear Antigen--metabolism<br/>Protein Stability<br/>Sequence Analysis, DNA<br/>Siblings<br/>Urogenital Abnormalities