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

Abstract

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… (More)
DOI: 10.1016/j.ygeno.2010.09.003

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