Karuthedath Vellarikkal, Shamsudheen <br/><br/>
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa.  [electronic resource] 

 -  F1000Research  2016 
 - 900 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>2046-1402 
<br/><br/><label>Standard No.: </label>10.12688/f1000research.8380.1  doi