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Article

Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd).

Genomics - 1 Dec 2010

Goldstein Orly, Kukekova Anna V, Aguirre Gustavo D, Acland Gregory M

Abstract excerpt

Fine mapping followed by candidate gene analysis of erd - a canine hereditary retinal degeneration characterized by aberrant photoreceptor development - established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein, including binding sites...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20887780
DOI: 10.1016/j.ygeno.2010.09.003
PMCID: PMC2996878

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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