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Article

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.

Clinical genetics - 1 Jan 2019

Bellai-Dussault Kara, Nguyen Thi Tuyet Mai, Baratang Nissan V, Jimenez-Cruz Daniel A, Campeau Philippe M

Abstract excerpt

It is estimated that 0.5% of all mammalian proteins have a glycosylphosphatidylinositol (GPI)-anchor. GPI-anchored proteins (GPI-APs) play key roles, particularly in embryogenesis, neurogenesis, immune response and signal transduction. Due to their involvement in many pathways and developmental events, defects in the genes involved in their synthesis and processing can result in a variety of genetic disorders for...

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Source

Identifiers

PMID: 30054924
DOI: 10.1111/cge.13425

Genes

GPI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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