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

Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.

Advances in experimental medicine and biology - 1 Jan 2003

Daiger Stephen P, Sullivan Lori S, Bowne Sara J, Kennan Avril, Humphries Peter, Birch David G, Heckenlively John R

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 Cloning, Molecular
Share to Eye Proteins
Share to Genes, Dominant
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to IMP Dehydrogenase

Share to Microtubule-Associated Proteins

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 15180241
DOI: 10.1007/978-1-4615-0067-4_1
PMCID: PMC2583078

Genes

IMPDH1

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

Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.PMID 15180241Read ↗

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

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

IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.Semantic proximity Read ↗

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.Semantic proximity Read ↗

Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa.Semantic proximity Read ↗

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.Semantic proximity Read ↗

Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.Semantic proximity Read ↗

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.Semantic proximity Read ↗

[Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene].Semantic proximity Read ↗

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.Semantic proximity Read ↗

Phenotypic variability associated with the D226N allele of IMPDH1.Semantic proximity Read ↗

Novel Variant IMPDH1 c.134A>G, p.(Tyr45Cys): Phenotype-Genotype Correlation Revealed Likely Benign Clinical Significance.Semantic proximity Read ↗

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