Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

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http://www.wikidata.org/entity/Q57814452
White matter astrocytes in health and disease.Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.Vanishing white matter disease associated with ptosis and myoclonic seizures.Vanishing white matter disease in a spanish population.Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter diseaseParadoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells.Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in OligodendrocytesCrystal structure of the C-terminal domain of the ɛ subunit of human translation initiation factor eIF2B.Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.Diabetic ketoacidosis in vanishing white matter.Enhancement of multiple cranial and spinal nerves in vanishing white matter: expanding the differential diagnosis.Vanishing white matter disease with mutations in EIF2B5 gene.
P2860

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

Item
http://www.wikidata.org/entity/Q57814452
description
article
@en
im Dezember 2007 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 2007
@uk
name
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
@en
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
@nl
type
label
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
@en
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
@nl
prefLabel
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
@en
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698