# In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/in-frame-deletion-in-a-novel-centrosomal-ciliary-protein-cep290-nphp6-perturbs/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Bo Chang,Hemant Khanna,Norman L. Hawes,David Jimeno,Shirley He,Concepción Lillo,Sunil K. Parapuram,Hong Cheng,Alison Scott,R.E. Hurd,John A. Sayer,Edgar A. Otto,Massimo Attanasio,John F. O’Toole,Genglin Jin,Chengchao Shou,Friedhelm Hildebrandt,David S. Williams,John R. Heckenlively,Anand Swaroop |
| Citations | 382 |
| DOI | 10.1093/hmg/ddl107 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://academic.oup.com/hmg/article-pdf/15/11/1847/13915451/ddl107.pdf |
| OpenAlex ID | https://openalex.org/W2167610910 |
| PMID | 16632484 |
| Type | article |
| Year | 2006 |

## Paper authors

- [John A. Sayer](https://scholariq.org/researchers/john-a-sayer/)

## Paper primary topic

- [Retinal Development and Disorders](https://scholariq.org/topics/retinal-development-and-disorders/)

## Paper topics

- [Retinal Development and Disorders](https://scholariq.org/topics/retinal-development-and-disorders/)
- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Microtubule and mitosis dynamics](https://scholariq.org/topics/microtubule-and-mitosis-dynamics/)

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