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

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.

Journal of medical genetics - 1 Dec 2002

Vandenberghe N, Upadhyaya M, Gatignol A, Boutrand L, Boucherat M, Chazot G, Vandenberghe A, Latour P

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to DNA-Binding Proteins
Share to Early Growth Response Protein 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Hereditary Central Nervous System Demyelinating Diseases

Share to Polymorphism, Single-Stranded Conformational

Share to Transcription Factors

Share to Zinc Fingers

Source

Open in PubMed Open full text

Identifiers

PMID: 12471219
DOI: 10.1136/jmg.39.12.e81
PMCID: PMC1757229

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.PMID 12471219Read ↗

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.Semantic proximity Read ↗

Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2).Semantic proximity Read ↗

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.Semantic proximity Read ↗

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.Semantic proximity Read ↗

Four frequently observed polymorphisms in the 3'-UTR of human peripheral myelin protein 22 (PMP22): identification of different haplotypes.Semantic proximity Read ↗

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1ASemantic proximity Read ↗

A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 diseaseSemantic proximity Read ↗

Resequencing of early growth response 2 (EGR2) gene revealed a recurrent patient-specific mutation in schizophrenia.Semantic proximity Read ↗

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.Semantic proximity Read ↗

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.Semantic proximity Read ↗

Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene.Semantic proximity Read ↗

Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy.Semantic proximity Read ↗

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