Guo, Bi-Rong <br/><br/>
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.  [electronic resource] 

 -  Journal of medical genetics  Sep 2012 
 - 563-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2012-100868  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence<br/>Asian People--genetics<br/>China<br/>Collagen--genetics<br/>DNA Mutational Analysis--methods<br/>Exome--genetics<br/>Female<br/>Genome, Human--genetics<br/>Glycoproteins--genetics<br/>Humans<br/>Keratoderma, Palmoplantar--genetics<br/>Male<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Pedigree<br/>Polymorphism, Single Nucleotide--genetics