Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation inC2orf71-Reference-Cited by-同舟云学术

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Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation inC2orf71

Published:2012-06-12 Issue:2 Volume:44 Page:169-177
ISSN:0268-9146
Container-title:Animal Genetics
language:en
Short-container-title:Anim Genet

Author:

Downs L. M.¹,Bell J. S.²,Freeman J.³,Hartley C.³,Hayward L. J.¹,Mellersh C. S.¹

Affiliation:

1. The Kennel Club Genetics Centre; Animal Health Trust; Newmarket CB8 7UU UK

2. Department of Clinical Sciences; Tufts Cummings School of Veterinary Medicine; North Grafton MA 01536 USA

3. Centre for Small Animal Studies; Animal Health Trust; Newmarket CB8 7UU UK

Publisher

Wiley

Subject

Genetics,Animal Science and Zoology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2052.2012.02379.x/fullpdf

Reference15 articles.

1. Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort;Audo;Human Mutation,2011

2. A new DNA sequence assembly program;Bonfield;Nucleic Acids Research,1995

3. Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa;Collin;American Journal of Human Genetics,2010

4. Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene;Dekomien;Cytogenetics and Cell Genetics,2000

5. Familial non-rcd1 generalised retinal degeneration in Irish setters;Djajadiningrat-Laanen;Journal of Small Animal Practice,2003

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3. Recent advances in the understanding of cilia mechanisms and their applications as therapeutic targets;Frontiers in Molecular Biosciences;2023-09-14

4. Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases;International Journal of Molecular Sciences;2023-06-26

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