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

New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.

American journal of medical genetics - 1 Jun 1992

Pratt V M, Trofatter J A, Larsen M B, Hodes M E, Dlouhy S R

Abstract excerpt

A C--greater than G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonuclease cleavage site. It is concordant with the disease in this family. One-hundred-ten unrelated X chromosomes...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to DNA
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Molecular Sequence Data

Share to Mutation

Share to Myelin Proteins

Share to Pedigree

Source

Identifiers

PMID: 1376553
DOI: 10.1002/ajmg.1320430335

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.PMID 1376553Read ↗

Pelizaeus-Merzbacher disease: a novel mutation in the 5'-untranslated region of the proteolipid protein gene.Semantic proximity Read ↗

A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus–Merzbacher diseaseSemantic proximity Read ↗

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.Semantic proximity Read ↗

Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.Semantic proximity Read ↗

A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

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