Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Nephronophthisis type 6 is an autosomal recessive disorder caused by mutations in the CEP290 gene.
| 1. |
Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 
|
| 2. |
Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
|
| 3. |
OMIM.ORG article Omim 610142
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
