PIGM

Publications

Almeida AM et al. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med. 2006;12(7):846-51. PMID: 16767100.

Almeida AM et al. Targeted therapy for inherited GPI deficiency. N Engl J Med. 2007;356(16):1641-7. PMID: 17442906.

Pode-Shakked B et al. Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. Mol Genet Metab. 2019;128(1-2):151-161. PMID: 31445883.