Mabuchi, A <br/><br/>
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.  [electronic resource] 

 -  American journal of medical genetics  Nov 2001 
 - 135-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0148-7299 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.10067  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Achondroplasia--diagnostic imaging<br/>Adolescent<br/>Amino Acid Sequence<br/>Cartilage Oligomeric Matrix Protein<br/>Exons<br/>Extracellular Matrix Proteins--chemistry<br/>Genotype<br/>Glycoproteins--chemistry<br/>Humans<br/>Male<br/>Matrilin Proteins<br/>Molecular Sequence Data<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Protein Structure, Tertiary<br/>Radiography<br/>Sequence Homology, Amino Acid