Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. [electronic resource]
Producer: 20180510Description: 1394-1401 p. digitalISSN:- 1098-1004
- Cerebellar Ataxia -- genetics
- Cerebellum -- abnormalities
- Child
- Child, Preschool
- Developmental Disabilities -- genetics
- Female
- Flow Cytometry
- Gene Expression
- Glycosylphosphatidylinositols -- chemistry
- Humans
- Intellectual Disability -- genetics
- Male
- Membrane Proteins -- genetics
- Nervous System Malformations -- genetics
- Pedigree
- Phosphotransferases (Alcohol Group Acceptor) -- chemistry
- Seizures -- genetics
- Siblings
- Exome Sequencing
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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