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Article

Investigation of SLA4A3 as a candidate gene for human retinal disease.

Journal of negative results in biomedicine - 23 May 2016

Downs Louise M, Webster Andrew R, Moore Anthony T, Michaelides Michel, Ali Robin R, Hardcastle Alison J, Mellersh Cathryn S

Abstract excerpt

SLC4A3 has been shown to cause retinal degeneration in a genetically engineered knockout mouse, and in a naturally occurring form of canine progressive retinal atrophy considered to be the equivalent of retinitis pigmentosa in humans (RP). This study was undertaken to investigate if SLC4A3 coding variants were implicated in human retinal degeneration. SLC4A3 exons were amplified and sequenced in 200 patients with...

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Identifiers

PMID: 27211793
DOI: 10.1186/s12952-016-0054-z
PMCID: PMC4876561

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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