Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/187156
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- Title
- RPGRIP1 and cone-rod dystrophy in dogs
- Related
- Advances in experimental medicine and biology, Vol. 723, Part 5, (2012), p.321-328
- DOI
- 10.1007/978-1-4614-0631-0_42
- Publisher
- Springer-Verlag
- Date
- 2012
- Author/Creator
- Kuznetsova, Tatyana
- Author/Creator
- Zangerl, Barbara
- Author/Creator
- Aguirre, Gustavo D
- Description
- Cone-rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype. This review highlights role of the RPGRIP1, a component of complex protein networks, and its function in the primary cilium, and discusses the potential mechanisms of genotype-phenotype discordance observed in dogs with the RPGRIP1 mutation.
- Description
- 8 page(s)
- Subject Keyword
- Cone-Rod Dystrophy
- Subject Keyword
- Photoreceptor Cilia
- Subject Keyword
- Polymorphism
- Subject Keyword
- Protein Network
- Subject Keyword
- RPGRIP1
- Resource Type
- journal article
- Organisation
- Macquarie University. Australian School of Advanced Medicine
- Identifier
- http://hdl.handle.net/1959.14/187156
- Identifier
- ISBN:9781461406303
- Identifier
- ISSN:0065-2598
- Identifier
- mq_res-ext-2-s2.0-84855932258
- Language
- eng
- Reviewed
