Limaye, Nisha <br/><br/>
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.  [electronic resource] 

 -  Human genetics  Dec 2007 
 - 549 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1432-1203 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Central Nervous System Neoplasms--genetics<br/>Hemangioma, Cavernous, Central Nervous System--genetics<br/>Humans<br/>Introns<br/>KRIT1 Protein<br/>Microtubule-Associated Proteins--genetics<br/>Point Mutation<br/>Proto-Oncogene Proteins--genetics<br/>RNA Splicing