Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations inPMM2
about
Major influence of repetitive elements on disease-associated copy number variants (CNVs)Congenital disorders of glycosylation with neonatal presentation.The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsThe Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.Glycosylation and related congenital defects
P2860
Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations inPMM2
description
im Dezember 2006 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 12 December 2006
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 2006
@uk
name
Congenital Disorder of Glycosy ...... gin of Common Mutations inPMM2
@en
Congenital Disorder of Glycosy ...... gin of Common Mutations inPMM2
@nl
type
label
Congenital Disorder of Glycosy ...... gin of Common Mutations inPMM2
@en
Congenital Disorder of Glycosy ...... gin of Common Mutations inPMM2
@nl
prefLabel
Congenital Disorder of Glycosy ...... gin of Common Mutations inPMM2
@en
Congenital Disorder of Glycosy ...... gin of Common Mutations inPMM2
@nl
P2860
P50
P1476
Congenital disorder of glycosy ...... in of common mutations in PMM2
@en
P2093
Vilarinho L
P2860
P304
P356
10.1111/J.1469-1809.2006.00334.X
P407
P577
2006-12-12T00:00:00Z