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Article

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.

Ophthalmic research - 1 Jan 2023

Ullah Mukhtar, Rehman Atta Ur, Folcher Marc, Ullah Adnan, Usman Faisal, Rashid Abdur, Khan Bilal, Quinodoz Mathieu, Ansar Muhammad, Rivolta Carlo

Abstract excerpt

INTRODUCTION: Retinitis pigmentosa (RP) is a rare degenerative retinal disease caused by mutations in approximately seventy genes. Currently, despite the availability of large-scale DNA sequencing technologies, ∼30-40% of patients still cannot be diagnosed at the molecular level. In this study, we investigated a novel intronic deletion of PDE6B, encoding the beta subunit of phosphodiesterase 6 in association with...

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Identifiers

PMID: 37094557
DOI: 10.1159/000530800

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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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