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

HNPP due to a novel missense mutation of the PMP22 gene.

Neurology - 10 Jun 2003

Nodera Hiroyuki, Nishimura Masataka, Logigian Eric L, Herrmann David N, Kaji Ryuji

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 Adolescent
Share to Demyelinating Diseases
Share to Electromyography
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hereditary Sensory and Motor Neuropathy

Share to Mutation, Missense

Share to Myelin Proteins

Share to Paralysis

Source

Identifiers

PMID: 12796555
DOI: 10.1212/01.wnl.0000066049.13848.f2

Genes

PMP22

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

HNPP due to a novel missense mutation of the PMP22 gene.PMID 12796555Read ↗

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.Semantic proximity Read ↗

A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome.Semantic proximity Read ↗

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.Semantic proximity Read ↗

Predicted pathogenic missense mutation of PGRN found in a normal control.Semantic proximity Read ↗

A de novo C19orf12 heterozygous mutation in a patient with MPAN.Semantic proximity Read ↗

Human nerve pathology caused by different mutational mechanisms of the PMP22 gene.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.Semantic proximity Read ↗

The PMP22 gene and its related diseases.Semantic proximity Read ↗

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.Semantic proximity Read ↗

Two families with novel PMP22 point mutations: genotype-phenotype correlation.Semantic proximity Read ↗

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

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