Howard MF et al.Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am J Hum Genet. 2014;94(2):278-87. PMID: 24439110.
Knaus A et al.Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation. Syndrome Hum Mutat. 2016;37(8):737-44. PMID: 27120253.
PGAP3