Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders
Author:
Affiliation:
1. Medical Genetics DivisionChildren's Hospital of Eastern Ontario Ottawa ON Canada
2. CHU Sainte‐Justine Research CenterUniversity of Montreal Montreal QC Canada
3. Department of PediatricsUniversity of Montreal Montreal QC Canada
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13425
Reference58 articles.
1. Glycosylphosphatidylinositol (GPI) Anchors: Biochemistry and Cell Biology: Introduction to a Thematic Review Series
2. Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria
3. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria
4. The genotypic and phenotypic spectrum of PIGA deficiency
5. A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model
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