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Article

Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jun 2016

Forman Oliver P, Hitti Rebekkah J, Boursnell Mike, Miyadera Keiko, Sargan David, Mellersh Cathryn

Abstract excerpt

Retinal degeneration (RD) in the Miniature Long Haired Dachshund (MLHD) is a cone-rod dystrophy resulting in eventual blindness in affected individuals. In a previous study, a 44-nucleotide insertion (ins44) in exon 2 of RPGRIP1 was associated with RD. However, results on an extended population of MLHD revealed a variable RD onset age for ins44 homozygous dogs. Further investigations using a genome-wide...

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Source

Identifiers

PMID: 27017229
DOI: 10.1007/s00335-016-9627-x

Genes

MAP9
RPGRIP1
RPGR

Provenance

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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Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.PMID 27017229Read ↗

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