Cargando…
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9
PURPOSE: To identify the causative mutation in a canine cone-rod dystrophy (crd3) that segregates as an adult onset disorder in the Glen of Imaal Terrier breed of dog. METHODS: Glen of Imaal Terriers were ascertained for crd3 phenotype by clinical ophthalmoscopic examination, and in selected cases b...
Autores principales: | Goldstein, Orly, Mezey, Jason G., Boyko, Adam R., Gao, Chuan, Wang, Wei, Bustamante, Carlos D., Anguish, Lynne J., Jordan, Julie Ann, Pearce-Kelling, Susan E., Aguirre, Gustavo D., Acland, Gregory M. |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925905/ https://www.ncbi.nlm.nih.gov/pubmed/20806078 |
Ejemplares similares
-
Cone rod dystrophies
por: Hamel, Christian P
Publicado: (2007) -
Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice
por: Parry, David A., et al.
Publicado: (2009) -
Unilateral retinitis pigmentosa and cone-rod dystrophy
por: Farrell, Donald F
Publicado: (2009) -
The research output of rod-cone dystrophy genetics
por: Jaffal, Lama, et al.
Publicado: (2022) -
Multiple Mechanisms Contribute to Leakiness of a Frameshift Mutation in Canine Cone-Rod Dystrophy
por: Miyadera, Keiko, et al.
Publicado: (2012)