Denais, Celine <br/><br/>
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.  [electronic resource] 

 -  Human mutation  Feb 2011 
 - 231-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.21413  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Bone Development<br/>Cells, Cultured<br/>Chondrogenesis<br/>Cytoplasm--metabolism<br/>Dwarfism--metabolism<br/>Extracellular Matrix--metabolism<br/>Fibroblasts--metabolism<br/>Genetic Diseases, X-Linked--metabolism<br/>Golgi Apparatus--metabolism<br/>HeLa Cells<br/>Humans<br/>Intellectual Disability--metabolism<br/>Intracellular Signaling Peptides and Proteins<br/>Mutation<br/>Osteochondrodysplasias--congenital<br/>Proteins--metabolism<br/>Skin--cytology<br/>Two-Hybrid System Techniques<br/>Zebrafish--embryology