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

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

Molecular vision - 21 Apr 2008

Abbasi Anan H, Garzozi Hanna J, Ben-Yosef Tamar

Abstract excerpt

PURPOSE: To investigate the genetic basis for autosomal recessive severe early-onset retinitis pigmentosa (RP) in a consanguineous Israeli Muslim Arab family. METHODS: Haplotype analysis for all known genes underlying autosomal recessive RP was performed. Mutation screening of the underlying gene was done by direct sequencing. An in vitro splicing assay was used to evaluate the effect of the identified mutation...

Read the complete abstract on PubMed

Topics

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

Share to Arabs
Share to Consanguinity
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fundus Oculi

Share to Israel

Share to Retinitis Pigmentosa

Share to RNA Splice Sites

Source

Open in PubMed Open full text

Identifiers

PMID: 18432314
PMCID: PMC2329669

Genes

TULP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.PMID 18432314Read ↗

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.Semantic proximity Read ↗

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Semantic proximity Read ↗

Novel Homozygous <i>TULP1</i> and <i>RPE65</i> Variants Underlies Recessive Retinitis PigmentosaSemantic proximity Read ↗

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.Semantic proximity Read ↗

A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.Semantic proximity Read ↗

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.Semantic proximity Read ↗

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.Semantic proximity Read ↗

A novel homozygous missense mutation p.P388S in <i>TULP1</i> causes protein instability and retinitis pigmentosaSemantic proximity Read ↗

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene.Semantic proximity Read ↗

Investigation of Aberrant Splicing Induced byAIPL1Variations as a Cause of Leber Congenital AmaurosisSemantic proximity Read ↗

Splicing mutations in inherited retinal diseases.Semantic proximity Read ↗

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family.Semantic proximity Read ↗

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