Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
about
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patientsMutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).Congenital disorders of glycosylation: a review.A glycogene mutation map for discovery of diseases of glycosylation.Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia)Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of GlycosylationSystematic review of autosomal recessive ataxias and proposal for a classification.A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylationThe molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsFunctional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.Clinical utility gene card for: Phosphomannomutase 2 deficiency.Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
P2860
Q24681036-14E1D3D1-94DC-47ED-8369-2302F0C4921DQ28142744-2C0F9F90-FCEE-471B-8C0F-D27344640852Q30607614-AAFC3F55-ED1B-4CFA-9D1B-A11FCAF220B4Q34044174-6CA4E333-1DA7-4B8C-A037-85E7539A1A0FQ34985163-070BDBA6-D40D-4343-AF75-630EB7D2D3F0Q35152903-BF1A1358-AE27-4DE0-8477-E7C9588A0106Q35271199-0E7EE0D1-B091-4850-A2AD-37B9968224C6Q35571276-C4CA252C-79F9-4CF7-8003-B3DC92A7CA03Q35604388-60DFFBA2-443D-48AA-9300-ABAE23AF6D12Q35815887-01D4EA94-7610-4A33-9777-03FEDEFB1B82Q36559149-320FC89F-6A71-474A-8847-52264BAEEEECQ37663386-A8BA8910-584B-4216-9585-8EB9E2CE77ADQ38290461-2DAD5B13-2932-4E87-9736-6D2515B07E8CQ38689946-DA18E401-F232-4DB4-8CF5-48DD6819B400Q39548423-AF7C4197-5757-4DFE-9CCE-BF1267CA4644Q41874177-728B12CC-E58C-4AFB-9F78-2F45CEE0FCBEQ42367639-19D4585F-70A1-46EC-8D5E-D6B65FEB101CQ42612955-D8E726C6-7704-4AA9-A0E3-1C8832C66F86Q43177347-D0C0A7D7-3E35-41FD-AF7B-CEDB42CD0D17Q46035650-810DB848-001F-47C7-A18E-1F64A92188FDQ46809413-B6831B02-9C49-4559-8DB5-6928146306E7Q46988494-A9085D24-F844-40FA-979D-5C3EA73B8513Q50444478-10C947D8-48DF-44BE-BA79-D6154BB2A01A
P2860
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
description
1998 nî lūn-bûn
@nan
1998 թուականին հրատարակուած գիտական յօդուած
@hyw
1998 թվականին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@ast
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@en
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@nl
type
label
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@ast
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@en
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@nl
prefLabel
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@ast
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@en
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@nl
P2093
P3181
P356
P1476
Absence of homozygosity for pr ...... t glycoprotein syndrome type 1
@en
P2093
M Schwartz
S Kjaergaard
P2888
P3181
P356
10.1038/SJ.EJHG.5200194
P407
P577
1998-01-01T00:00:00Z