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

Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.

Human mutation - 1 Jan 1995

Fuchs S, Kellner U, Wedemann H, Gal A

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 Arginine
Share to Blindness
Share to Genetic Linkage
Share to Mutation

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

Share to Retinal Diseases

Share to X Chromosome

Source

Identifiers

PMID: 8535448
DOI: 10.1002/humu.1380060312

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

Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.PMID 8535448Read ↗

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.Semantic proximity Read ↗

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.Semantic proximity Read ↗

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.Semantic proximity Read ↗

Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy.Semantic proximity Read ↗

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.Semantic proximity Read ↗

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.Semantic proximity Read ↗

Mutations in the <i>NDP</i> gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematuritySemantic proximity Read ↗

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.Semantic proximity Read ↗

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