Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

Item
http://www.wikidata.org/entity/Q28293745
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.Congenital disorders of glycosylation: a review.Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.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 GeneHeterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsCongenital 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.Comparison of body fat-free masses calculated from hand-to-foot and foot-to-foot resistances with DXA measurements.
P2860

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

Item
http://www.wikidata.org/entity/Q28293745
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
Detailed mapping of the phosph ...... andinavian CDG type I families
@ast
Detailed mapping of the phosph ...... andinavian CDG type I families
@en
Detailed mapping of the phosph ...... andinavian CDG type I families
@nl
type
label
Detailed mapping of the phosph ...... andinavian CDG type I families
@ast
Detailed mapping of the phosph ...... andinavian CDG type I families
@en
Detailed mapping of the phosph ...... andinavian CDG type I families
@nl
prefLabel
Detailed mapping of the phosph ...... andinavian CDG type I families
@ast
Detailed mapping of the phosph ...... andinavian CDG type I families
@en
Detailed mapping of the phosph ...... andinavian CDG type I families
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Detailed mapping of the phosph ...... andinavian CDG type I families
@en
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698