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PIGL gene

Known as: PIGL, phosphatidylinositol glycan anchor biosynthesis class L, PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS L PROTEIN 
National Institutes of Health

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Related topics

1 relation
Phosphatidylinositol Glycan

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL
A. Onoufriadis, J. K. Simpson, C. McDonald, T. T. M. Nguyen, P. M. Campeau, M. A. Simpson, A. E. Martinez and J. A. McGrath St… 
2018
2018
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders
2018
2018
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Abstract CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an… 
2018
2018
Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency.
Inherited glycosylphosphatidylinositol anchor deficiency causes a variety of clinical symptoms, including epilepsy, however… 
Highly Cited
2017
Highly Cited
2017
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes… 
2017
2017
Alu‐mediated deletion of PIGL in a Patient with CHIME syndrome
CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, six… 
2015
2015
Both PIGA and PIGL mutations cause GPI‐a deficient isolates in the Tk6 cell line
Molecular analysis of proaerolysin selected glycosylphosphatidylinositol anchor (GPI‐a) deficient isolates in the TK6 cell line… 
2012
2012
Radiation Induced by Charged Particles in Optical Fibers
The electric field of a charged particle passing through or near an optical fiber induces a transient charges and currents in the… 
1968
1968
Glycolipids isolated from porcine intestine.
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