Knaus, Alexej <br/><br/>
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.  [electronic resource] 

 -  American journal of human genetics  08 2019 
 - 395-402 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.2019.06.009  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acyltransferases--genetics<br/>Adolescent<br/>Adult<br/>Amino Acid Sequence<br/>Brain Diseases--etiology<br/>Child<br/>Child, Preschool<br/>Epilepsy--etiology<br/>Female<br/>Glycosylphosphatidylinositols--biosynthesis<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Intellectual Disability--etiology<br/>Male<br/>Mutation<br/>Pedigree<br/>Seizures--genetics<br/>Sequence Homology<br/>Young Adult