Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. [electronic resource]
Producer: 20200316Description: 395-402 p. digitalISSN:- 1537-6605
- Acyltransferases -- genetics
- Adolescent
- Adult
- Amino Acid Sequence
- Brain Diseases -- etiology
- Child
- Child, Preschool
- Epilepsy -- etiology
- Female
- Glycosylphosphatidylinositols -- biosynthesis
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability -- etiology
- Male
- Mutation
- Pedigree
- Seizures -- genetics
- Sequence Homology
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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