Germeshausen, Manuela <br/><br/>
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.  [electronic resource] 

 -  Human mutation  Jun 2013 
 - 905-14 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22308  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Codon, Initiator<br/>Enzyme Activation<br/>Exons<br/>Gene Expression<br/>Genotype<br/>Hematologic Neoplasms--etiology<br/>Humans<br/>Leukocyte Elastase--genetics<br/>Mutation<br/>Neutropenia--complications<br/>Neutrophils--metabolism<br/>Polymorphism, Genetic<br/>Promoter Regions, Genetic<br/>Protein Transport<br/>RNA Splice Sites<br/>RNA, Messenger--genetics