KEGG   VARIANT: 93183v1
Entry
93183v1                      Variant                               
Name
PIGM deficiency
Type
Loss of function
Gene
PIGM  phosphatidylinositol glycan anchor biosynthesis class M [KO:K05284]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610273
Network
nt06018  GPI-anchor biosynthesis
Disease
H01127  PIGM-congenital disorder of glycosylation
Reference
PMID:16767100
  Authors
Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A
  Title
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
  Journal
Nat Med 12:846-51 (2006)
DOI:10.1038/nm1410
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