Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
The American Journal of Human Genetics（2018）
Key words
PIGS,glycosylphosphatidylinositol,epilepsy,seizures,inherited GPI deficiency,glycosylphosphatidylinositol biosynthesis defect
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