Scientific Newsletter
Mutations of the Neuroretina-linked Leucine Zipper Gene
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Retina International's Scientific Newsletter |
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Mutation Database Mutations of the Neuroretina-linked Leucine Zipper Gene |
Recent update from: 18.07.99
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
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| ADRP | Ser 50 Thr | TCA-ACA | 1942 | 2 | -HphI | Increase in the transactivation |
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(1) |
References
1. Bessant, D.A., Payne, A.M., Mitton, K.P., Wang, Q.L., Swain, P.K., Plant, C., Bird, A.C., Zack, D.J., Swaroop, A., and Bhattacharya, S.S. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 1999; Nat.Genet. 21: 355 - 356.
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Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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