GPAA1

Publications

Bellai-Dussault K et al. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders. Clinical genetics. 2019;95(1): 112-21. PMID: 30054924.

Nguyen TTM et al. Mutations in GPAA1, encoding a GPI transamidase complex protein, cause developmental delay, epilepsy, cerebellar atrophy, and osteopenia. Am J Hum Genet. 2017;101(5): 856-865. PMCID: PMC5673666.

Castle AMR et al. Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1. Neurol Genet. 2021 Oct 21;7(6):e631. PMID: 34703884