Barresi, S <br/><br/>
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.  [electronic resource] 

 -  Clinical genetics  01 2017 
 - 86-91 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12783  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence<br/>Binding Sites--genetics<br/>Child<br/>Exome--genetics<br/>Family Health<br/>Female<br/>Genetic Predisposition to Disease--genetics<br/>Humans<br/>Inositol 1,4,5-Trisphosphate Receptors--genetics<br/>Lectins, C-Type--metabolism<br/>Male<br/>Membrane Proteins--metabolism<br/>Middle Aged<br/>Mutation<br/>Pedigree<br/>Sequence Analysis, DNA--methods<br/>Sequence Homology, Amino Acid<br/>Spinocerebellar Ataxias--genetics<br/>Young Adult