Title : Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Pub. Date : 2014 Feb 6

PMID : 24439110






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Subsequent testing showed elevated serum alkaline phosphatase (ALP), a GPI-anchored enzyme, in all three affected children. GPI 1046 alkaline phosphatase, placental Homo sapiens
2 Subsequent testing showed elevated serum alkaline phosphatase (ALP), a GPI-anchored enzyme, in all three affected children. GPI 1046 alkaline phosphatase, placental Homo sapiens