McEntagart, Meriel <br/><br/>
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.  [electronic resource] 

 -  American journal of human genetics  05 2016 
 - 981-992 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2016.03.018  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Animals<br/>Aniridia--etiology<br/>Cells, Cultured<br/>Cerebellar Ataxia--etiology<br/>Child<br/>Female<br/>Genes, Dominant--genetics<br/>Humans<br/>Inositol 1,4,5-Trisphosphate Receptors--chemistry<br/>Intellectual Disability--etiology<br/>Lymphocytes--metabolism<br/>Male<br/>Mice<br/>Microscopy, Confocal<br/>Middle Aged<br/>Mutation--genetics<br/>Pedigree<br/>Protein Conformation