Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

Journal of human genetics - 1 Feb 2009

Wu Ye, Pan Yanxia, Du Li, Wang Jingmin, Gu Qiang, Gao Zhijie, Li Jie, Leng Xuerong, Qin Jiong, Wu Xiru, Jiang Yuwu

Abstract excerpt

Vanishing white matter (VWM) disease, inherited in an autosomal recessive manner, is one of the most prevalent inherited leukoencephalopathies in childhood. It is a hereditary human disease resulting from the direct defects during protein synthesis, with the gene defects in EIF2B1-5 (identified in 2001-2002) encoding the five subunits of eukaryotic translation initiation factor (eIF2B alpha, beta, gamma, delta...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Conserved Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Eukaryotic Initiation Factor-2B

Share to Infant

Share to Leukoencephalopathies

Share to Magnetic Resonance Imaging

Share to Mutation, Missense

Source

Identifiers

PMID: 19158808
DOI: 10.1038/jhg.2008.10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.PMID 19158808Read ↗

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.Semantic proximity Read ↗

Genetic screening of EIF2B genes reveals mutation spectrum and predicted prevalence of vanishing white matter disease in Chinese population.Semantic proximity Read ↗

Compound heterozygous mutations of two eIF2B genes in early childhood onset form of vanishing white matter diseaseSemantic proximity Read ↗

Vanishing white matter disease: the first reported chinese patient.Semantic proximity Read ↗

Vanishing white matter disease: a review with focus on its genetics.Semantic proximity Read ↗

A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.Semantic proximity Read ↗

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.Semantic proximity Read ↗

Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.Semantic proximity Read ↗

Identification of ten novel mutations in patients with eIF2B-related disorders.Semantic proximity Read ↗

Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up.Semantic proximity Read ↗

[Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter].Semantic proximity Read ↗

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.