Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

about

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

P2860

Q41002500-F08D6C06-727D-4705-B723-2926B4921A43

P2860

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

Item

http://www.wikidata.org/entity/Q36695784

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

@ast

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

@en

type

Item

label

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

@ast

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

@en

prefLabel

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

@ast

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

@en

P1476

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

@en

P2093

Dirk Lefeber

http://www.w3.org/2001/XMLSchema#string

Jaak Jaeken

http://www.w3.org/2001/XMLSchema#string

P2860

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.

Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.

P2888

ejhg.2015.177

P31

scholarly article

P356

10.1038/EJHG.2015.177

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Gert Matthijs

P577

2015-08-05T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P6179

1019819282

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P698

26242989

http://www.w3.org/2001/XMLSchema#string

P921

birth defect

glycosylation

P932

4795212

http://www.w3.org/2001/XMLSchema#string

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

about

P2860

P2860

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P6179

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P6179

P698

P921

P932