GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients. - Wikidata - wikimedia - TriplyDB

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

http://www.wikidata.org/entity/Q33592500

about

Neurological aspects of human glycosylation disorders Genome-Wide Screening of Genes Required for Glycosylphosphatidylinositol Biosynthesis.Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Immunological aspects of congenital disorders of glycosylation (CDG): a review.Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

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P2860

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

http://www.wikidata.org/entity/Q33592500

description

2013 nî lūn-bûn

@nan

2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

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GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

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type

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GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

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GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

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prefLabel

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

@ast

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

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P1433

Orphanet Journal of Rare Diseases

P1476

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

@en

P2093

Antonia Miñano

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Carmen Altisent

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Jaak Jaeken

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Roberto García-López

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Soren R Kristensen

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Teresa Sevivas

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P2860

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

Alternative membrane forms of Fc gamma RIII(CD16) on human natural killer cells and neutrophils. Cell type-specific expression of two genes that differ in single nucleotide substitutions

Thrombosis in paroxysmal nocturnal hemoglobinuria

CDG nomenclature: time for a change!

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Endotoxin recognition and signal transduction by the TLR4/MD2-complex.

Understanding human glycosylation disorders: biochemistry leads the charge.

Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake.

Congenital disorders of glycosylation: a rapidly expanding disease family.

P2888

1750-1172-8-170

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10.1186/1750-1172-8-170

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8

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P50

Maria Eugenia De La Morena-barrio

Maria L. Lozano

Vicente Vicente

Irene Martínez-Martínez

Encarna Guillén-Navarro

BELEN PEREZ DUEÑAS

Trinidad Hernández-Caselles

P577

2013-10-20T00:00:00Z

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