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

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

Journal of medical genetics - 1 Aug 2003

Hameed A, Abid A, Aziz A, Ismail M, Mehdi S Q, Khaliq S

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 Consanguinity
Share to Cytoskeletal Proteins
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Photoreceptor Cells, Vertebrate

Share to Proteins

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 12920076
DOI: 10.1136/jmg.40.8.616
PMCID: PMC1735563

Genes

RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.PMID 12920076Read ↗

A retGC-1 Mutation in Autosomal Dominant Cone-Rod DystrophySemantic proximity Read ↗

RPGRIP1 and cone-rod dystrophy in dogs.Semantic proximity Read ↗

Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.Semantic proximity Read ↗

Genes and mutations in autosomal dominant cone and cone-rod dystrophy.Semantic proximity Read ↗

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 PatientsSemantic proximity Read ↗

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.Semantic proximity Read ↗

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapySemantic proximity Read ↗

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.Semantic proximity Read ↗

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology.Semantic proximity Read ↗

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.Semantic proximity Read ↗

Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations.Semantic proximity Read ↗

The genetics of rod-cone dystrophy in Arab countries: a systematic review.Semantic proximity Read ↗

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