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Article

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.

Physiological genomics - 1 Dec 2016

Branham Kari, Matsui Hiroko, Biswas Pooja, Guru Aditya A, Hicks Michael, Suk John J, Li He, Jakubosky David, Long Tao, Telenti Amalio, Nariai Naoki, Heckenlively John R, Frazer Kelly A, Sieving Paul A, Ayyagari Radha

Abstract excerpt

While more than 250 genes are known to cause inherited retinal degenerations (IRD), nearly 40-50% of families have the genetic basis for their disease unknown. In this study we sought to identify the underlying cause of IRD in a family by whole genome sequence (WGS) analysis. Clinical characterization including standard ophthalmic examination, fundus photography, visual field testing, electroretinography, and...

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Source

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Identifiers

PMID: 27764769
DOI: 10.1152/physiolgenomics.00101.2016
PMCID: PMC5206392

Genes

AGBL5

Variants

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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