IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds - Wikidata - wikimedia - TriplyDB

IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds

IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds

http://www.wikidata.org/entity/Q37259774

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Review: the history and role of naturally occurring mouse models with Pde6b mutations Assessment of Rod, Cone, and Intrinsically Photosensitive Retinal Ganglion Cell Contributions to the Canine Chromatic Pupillary Response Advances in Gene Therapy for Diseases of the Eye.Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).Dog models for blinding inherited retinal dystrophies Inherited retinal diseases in dogs: advances in gene/mutation discovery Animal modelling for inherited central vision loss.Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.Novel retinopathy in related Gordon setters: a clinical, behavioral, electrophysiological, and genetic investigation.The genetics of inherited retinal disorders in dogs: implications for diagnosis and management Translational Retinal Research and Therapies

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IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds

http://www.wikidata.org/entity/Q37259774

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 25 October 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

IQCB1 and PDE6B mutations caus ...... ely related terrier dog breeds

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IQCB1 and PDE6B mutations caus ...... ly related terrier dog breeds.

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IQCB1 and PDE6B mutations caus ...... ely related terrier dog breeds

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IQCB1 and PDE6B mutations caus ...... ly related terrier dog breeds.

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IQCB1 and PDE6B mutations caus ...... ely related terrier dog breeds

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IQCB1 and PDE6B mutations caus ...... ly related terrier dog breeds.

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Investigative Ophthalmology & Visual Science

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IQCB1 and PDE6B mutations caus ...... ely related terrier dog breeds

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Adam R Boyko

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Chuan Gao

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Gregory M Acland

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Jason G Mezey

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Julie Ann Jordan

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Orly Goldstein

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Peter A Schweitzer

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P2860

The dynamic cilium in human diseases

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa

Coat variation in the domestic dog is governed by variants in three genes

A single IGF1 allele is a major determinant of small size in dogs

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

PLINK: a tool set for whole-genome association and population-based linkage analyses

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

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7005-7019

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scholarly article

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10.1167/IOVS.13-12915

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10

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54

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Carlos D. Bustamante

Gustavo D Aguirre

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2013-10-25T00:00:00Z

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256705396

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24045995

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3809947

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