Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic - Wikidata - wikimedia - TriplyDB

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

http://www.wikidata.org/entity/Q28142018

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Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If ALG8-CDG: novel patients and review of the literature.DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)Systems biology approach to identify transcriptome reprogramming and candidate microRNA targets during the progression of polycystic kidney disease Insights into complexity of congenital disorders of glycosylation.Update and perspectives on congenital disorders of glycosylation.Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.Neurology of inherited glycosylation disorders.Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.Congenital disorders of glycosylation: a review.Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum.Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor.Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.Defective ALG6 causes ALG6-CDG (CDG-1c)Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders.Defective ALG6 does not add glucose to the N-glycan precursor Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population.

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P2860

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

http://www.wikidata.org/entity/Q28142018

description

2000 nî lūn-bûn

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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի մայիսին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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name

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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type

label

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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prefLabel

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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B Schenk

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E G Berger

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E Schollen

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