Zhao, Jin James <br/><br/>
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.  [electronic resource] 

 -  Human mutation  10 2017 
 - 1394-1401 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.23268  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cerebellar Ataxia--genetics<br/>Cerebellum--abnormalities<br/>Child<br/>Child, Preschool<br/>Developmental Disabilities--genetics<br/>Female<br/>Flow Cytometry<br/>Gene Expression<br/>Glycosylphosphatidylinositols--chemistry<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Membrane Proteins--genetics<br/>Nervous System Malformations--genetics<br/>Pedigree<br/>Phosphotransferases (Alcohol Group Acceptor)--chemistry<br/>Seizures--genetics<br/>Siblings<br/>Exome Sequencing