Ortega-Recalde, O <br/><br/>
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.  [electronic resource] 

 -  Clinical and experimental dermatology  Oct 2015 
 - 757-60 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1365-2230 
<br/><br/><label>Standard No.: </label>10.1111/ced.12627  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Female<br/>Genes, Recessive<br/>Genetic Predisposition to Disease<br/>Humans<br/>Ichthyosiform Erythroderma, Congenital--genetics<br/>Mutation<br/>RNA Splice Sites--genetics<br/>Transglutaminases--genetics