Identification of ten novel mutations in patients with eIF2B-related disorders
about
Identification of residues that underpin interactions within the eukaryotic initiation factor (eIF2) 2B complexSensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.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 diseaseProteomics analysis to reveal biological pathways and predictive proteins in the survival of high-grade serous ovarian cancerDiabetic ketoacidosis in vanishing white matter.Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study.Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
P2860
Q28730770-3C0AE5B7-20E2-471B-85E2-34985078C77BQ34103337-D3C4B089-1FB8-4E92-BB31-A8A85D80FDDBQ35003652-434D31F0-2276-4B75-B95A-991132D72D10Q35168282-33E769E1-69E3-4019-9C69-9686BB0809A6Q35749160-750B3B34-9D27-4462-8047-5600D5309286Q38602962-69D9AA3E-F4B5-4C0A-B8AF-568CB30EEBB7Q41840745-102E8DE2-D330-46AC-AB93-AD9132F8CF8CQ45945811-CBB0F1B1-68A0-4E95-842A-7961DDEA8E88Q46039775-3E6FFD93-9F82-4003-886A-CF87BD396FB0Q46689920-9F4F2C1B-ED2C-4168-9025-BAE46759AD92Q57814452-9A1BE6EB-B46D-4621-BF96-7C6D784395A3
P2860
Identification of ten novel mutations in patients with eIF2B-related disorders
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Identification of ten novel mutations in patients with eIF2B-related disorders
@ast
Identification of ten novel mutations in patients with eIF2B-related disorders
@en
Identification of ten novel mutations in patients with eIF2B-related disorders
@en-gb
Identification of ten novel mutations in patients with eIF2B-related disorders
@nl
type
label
Identification of ten novel mutations in patients with eIF2B-related disorders
@ast
Identification of ten novel mutations in patients with eIF2B-related disorders
@en
Identification of ten novel mutations in patients with eIF2B-related disorders
@en-gb
Identification of ten novel mutations in patients with eIF2B-related disorders
@nl
prefLabel
Identification of ten novel mutations in patients with eIF2B-related disorders
@ast
Identification of ten novel mutations in patients with eIF2B-related disorders
@en
Identification of ten novel mutations in patients with eIF2B-related disorders
@en-gb
Identification of ten novel mutations in patients with eIF2B-related disorders
@nl
P2093
P3181
P356
P1433
P1476
Identification of ten novel mutations in patients with eIF2B-related disorders
@en
P2093
Alfried Kohlschütter
Andreas Ohlenbusch
Folker Hanefeld
Jutta Gärtner
Knut Brockmann
Marco Henneke
Maria Goerg
P3181
P356
10.1002/HUMU.9325
P407
P577
2005-04-01T00:00:00Z