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 mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family.

Human mutation - 1 Jan 1996

Reig C, Alvarez A I, Tejada I, Molina M, Aróstegui E, Martín R, Antich J, Carballo M

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 Genes, Dominant
Share to Introns
Share to Mutation
Share to Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinitis Pigmentosa

Share to Rhodopsin

Share to RNA Splicing

Source

Identifiers

PMID: 8807346
DOI: 10.1002/(SICI)1098-1004(1996)8:1<93::AID-HUMU17>3.0.CO;2-M

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family.PMID 8807346Read ↗

Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.Semantic proximity Read ↗

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.Semantic proximity Read ↗

Rhodopsin splice site sequence changes in retinitis pigmentosa and their effect at the mRNA level.Semantic proximity Read ↗

Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country.Semantic proximity Read ↗

A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island.Semantic proximity Read ↗

Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

[The novel R252P mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan].Semantic proximity Read ↗

[A Chinese family with autosomal dominant retinitis pigmentosa and a pro347Leu rhodopsin gene mutation].Semantic proximity Read ↗

De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy.Semantic proximity Read ↗

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.Semantic proximity Read ↗

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