Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic
about
Limitations of the human reference genome for personalized genomicsUpdate 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.Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum.ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.Defective ALG6 causes ALG6-CDG (CDG-1c)Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.Defective ALG6 does not add glucose to the N-glycan precursorEmployment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population.
P2860
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P2860
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic
description
2000 nî lūn-bûn
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2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2000 թվականի հուլիսին 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
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@ast
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@en
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@en-gb
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@nl
type
label
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@ast
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@en
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@en-gb
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@nl
prefLabel
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@ast
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@en
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@en-gb
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@nl
P2093
P921
P356
P1476
Analysis of multiple mutations ...... l disorder of glycosylation Ic
@en
P2093
C Schottstädt
H H Freeze
T Marquardt
V Westphal
P304
P356
10.1006/MGME.2000.3017
P407
P577
2000-07-01T00:00:00Z