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

Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2008

Devuyst Olivier, Arnould Véronique J

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 Adaptor Proteins, Signal Transducing
Share to Ciliary Motility Disorders
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Diseases, Cystic

Share to Mice, Knockout

Share to Proteins

Share to Syndrome

Source

Identifiers

PMID: 18281315
DOI: 10.1093/ndt/gfn033

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.PMID 18281315Read ↗

The ciliary protein Rpgrip1l in development and disease.Semantic proximity Read ↗

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.Semantic proximity Read ↗

The Role of RPGR and Its Interacting Proteins in CiliopathiesSemantic proximity Read ↗

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

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisisSemantic proximity Read ↗

Ciliopathies.Semantic proximity Read ↗

Ciliopathies.Semantic proximity Read ↗

Genetics: Causative genes identified in rare renal ciliopathies.Semantic proximity Read ↗

Ciliopathy: Senior-Løken Syndrome.Semantic proximity Read ↗

The morbid genome of ciliopathies: an update.Semantic proximity Read ↗

A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosisSemantic proximity Read ↗

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.Semantic proximity Read ↗

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