Genome-wide association study in RPGRIP1 −/− dogs identifies a modifier locus that determines the onset of retinal degeneration

Cone-rod dystrophy (CRD) is a form of inherited retinal degeneration (RD) causing blindness in man as well as in several breeds of dog. Previously, a 44 bp insertion in RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein-1) was associated with a recessive early-onset CRD (cone-rod dys...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Mammalian genome 2012-02, Vol.23 (1-2), p.212-223
Hauptverfasser:	Miyadera, Keiko, Kato, Kumiko, Boursnell, Mike, Mellersh, Cathryn S, Sargan, David R
Format:	Artikel
Sprache:	eng
Schlagworte:	Animal Genetics and Genomics Animals Animals, Genetically Modified Biomedical and Life Sciences blindness Blindness - genetics Blindness - veterinary Cell Biology Dachshund Dog Diseases - genetics Dogs Female genes Genome-Wide Association Study - veterinary Genotype guanosinetriphosphatase homozygosity Homozygote Human Genetics inheritance (genetics) Leber Congenital Amaurosis - genetics Leber Congenital Amaurosis - veterinary Life Sciences loci macular degeneration Male mutation Oligonucleotide Array Sequence Analysis Phenotype phenotypic variation Polymorphism, Single Nucleotide Proteins - genetics Retinitis Pigmentosa - genetics Retinitis Pigmentosa - veterinary Sequence Analysis, DNA
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!