Tüysüz, Beyhan <br/><br/>
A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.  [electronic resource] 

 -  Acta dermato-venereologica  2010 
 - 95-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1651-2057 
<br/><br/><label>Standard No.: </label>10.2340/00015555-0769  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Genetic Predisposition to Disease<br/>Humans<br/>Male<br/>Mutation<br/>Netherton Syndrome--genetics<br/>Pedigree<br/>Phenotype<br/>Proteinase Inhibitory Proteins, Secretory--genetics<br/>RNA Splice Sites<br/>Serine Peptidase Inhibitor Kazal-Type 5<br/>Skin--pathology<br/>Turkey