Title : Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

Pub. Date : 2017 Feb

PMID : 28007986






1 Functional Relationships(s)
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1 The novel phenotype of our patients segregated with a homozygous loss-of-function sequence variant, causing the substitution of leucine at position 752 to phenylalanine, in PLAA, which causes disruption of the protein"s ability to induce prostaglandin E2 and cytosolic phospholipase A2 synthesis in patients" fibroblasts. Dinoprostone phospholipase A2 group IVA Homo sapiens