Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes ; volume:15 ; number:1 ; day:4 ; month:2 ; year:2020 ; pages:1-13 ; date:12.2020
Orphanet journal of rare diseases ; 15, Heft 1 (4.2.2020), 1-13, 12.2020
- Creator
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Carmody, Leigh C.
Blau, Hannah
Danis, Daniel
Zhang, Xingman A.
Gourdine, Jean-Philippe
Vasilevsky, Nicole
Krawitz, Peter
Thompson, Miles D.
Robinson, Peter N.
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s13023-020-1313-0
- URN
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urn:nbn:de:101:1-2020050501391727993676
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:52 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Carmody, Leigh C.
- Blau, Hannah
- Danis, Daniel
- Zhang, Xingman A.
- Gourdine, Jean-Philippe
- Vasilevsky, Nicole
- Krawitz, Peter
- Thompson, Miles D.
- Robinson, Peter N.
- SpringerLink (Online service)
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PredGPI: a GPI-anchor predictor
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
Proteomic scale high-sensitivity analyses of GPI membrane anchors
JAGGER localization and function are dependent on GPI anchor addition
Synthetic strategy for the preraration of branched Glycosyl-Phosphatidyl-Inositol (GPI) anchors
The GPI-anchor biosynthesis pathway is critical for syncytiotrophoblast differentiation and placental development
Alkyl-Acyl GPI anchor synthesis depends on the peroxisomal pathway of ether lipid biosynthesis
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
The Pigv341E mouse model for GPI anchor deficiency displays behavioral alterations and shows reduced synaptic transmission in the hippocampus
G.P.I. Control Unit MÜ26-18
G.P.I. Control Unit MÜ26-18
G.P.I. Control Unit MÜ29-18
PredGPI: a GPI-anchor predictor
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
Proteomic scale high-sensitivity analyses of GPI membrane anchors
JAGGER localization and function are dependent on GPI anchor addition
Synthetic strategy for the preraration of branched Glycosyl-Phosphatidyl-Inositol (GPI) anchors
The GPI-anchor biosynthesis pathway is critical for syncytiotrophoblast differentiation and placental development
Alkyl-Acyl GPI anchor synthesis depends on the peroxisomal pathway of ether lipid biosynthesis
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
The Pigv341E mouse model for GPI anchor deficiency displays behavioral alterations and shows reduced synaptic transmission in the hippocampus
G.P.I. Control Unit MÜ26-18
G.P.I. Control Unit MÜ26-18