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

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.

Molecular vision - 1 Jan 2014

Zobor Ditta, Balousha Ghassan, Baumann Britta, Wissinger Bernd

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. METHODS: We performed a clinical and molecular genetic study of a consanguineous Palestinian family with two three siblings affected with retinitis pigmentosa. DNA samples...

Read the complete abstract on PubMed

Topics

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

Share to Base Composition
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Family

Share to Fundus Oculi

Share to Genes, Recessive

Share to Middle East

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 24520187
PMCID: PMC3919667

Variants

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

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.PMID 24520187Read ↗

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.Semantic proximity Read ↗

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.Semantic proximity Read ↗

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Semantic proximity Read ↗

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani familySemantic proximity Read ↗

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.Semantic proximity Read ↗

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Semantic proximity Read ↗

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.Semantic proximity Read ↗

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.Semantic proximity Read ↗

Next-generation genetic testing for retinitis pigmentosa.Semantic proximity Read ↗

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.Semantic proximity Read ↗

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