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

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.

The British journal of ophthalmology - 1 Aug 2010

Shahzadi Amber, Riazuddin S Amer, Ali Shahbaz, Li David, Khan Shaheen N, Husnain Tayyab, Akram Javed, Sieving Paul A, Hejtmancik J Fielding, Riazuddin Sheikh

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is one of the most common ophthalmic disorders affecting one in approximately 5000 people worldwide. A nuclear family was recruited from the Punjab province of Pakistan to study the genetic basis of autosomal recessive RP. METHODS: All affected individuals un...

Read the complete abstract on PubMed

Topics

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

Share to c-Mer Tyrosine Kinase
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Electroretinography

Share to Lod Score

Share to Receptor Protein-Tyrosine Kinases

Share to Retinitis Pigmentosa

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 20538656
DOI: 10.1136/bjo.2009.171892
PMCID: PMC3393880

Genes

MERTK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20538656-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.PMID 20538656Read ↗

MERTK missense variants in three patients with retinitis pigmentosa.Semantic proximity Read ↗

A novel MERTK mutation causing retinitis pigmentosa.Semantic proximity Read ↗

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.Semantic proximity Read ↗

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

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.Semantic proximity Read ↗

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.Semantic proximity Read ↗

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.Semantic proximity Read ↗

The Molecular Basis of Retinal Dystrophies in PakistanSemantic proximity Read ↗

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.Semantic proximity Read ↗

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.Semantic proximity Read ↗

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