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Article

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

Molecular vision - 1 Jan 2015

Khan Shahid Y, Ali Shahbaz, Naeem Muhammad Asif, Khan Shaheen N, Husnain Tayyab, Butt Nadeem H, Qazi Zaheeruddin A, Akram Javed, Riazuddin Sheikh, Ayyagari Radha, Hejtmancik J Fielding, Riazuddin S Amer

Abstract excerpt

PURPOSE: This study was conducted to localize and identify causal mutations associated with autosomal recessive retinitis pigmentosa (RP) in consanguineous familial cases of Pakistani origin. METHODS: Ophthalmic examinations that included funduscopy and electroretinography (ERG) were performed to confirm the affectation status. Blood samples were collected from all participating individuals, and genomic DNA was...

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Share to Chromosomes, Human, Pair 5
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic Nucleotide Phosphodiesterases, Type 6

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Source

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Identifiers

PMID: 26321862
PMCID: PMC4539017

Genes

ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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